Protein Variants | Comment | Organism |
---|---|---|
A117P | missense mutation | Homo sapiens |
A239T | missense mutation | Homo sapiens |
A274T | missense mutation | Homo sapiens |
A308Y | the mutation is associated with fumarase deficiency | Homo sapiens |
A385D | missense mutation | Homo sapiens |
C333Y | missense mutation | Homo sapiens |
D425V | the mutation is associated with fumarase deficiency | Homo sapiens |
E355K | missense mutation | Homo sapiens |
E362Q | the mutation is associated with fumarase deficiency | Homo sapiens |
F312C | the mutation is associated with fumarase deficiency | Homo sapiens |
G282V | missense mutation | Homo sapiens |
G397R | missense mutation | Homo sapiens |
H135R | missense mutation | Homo sapiens |
H180R | missense mutation | Homo sapiens |
H318L | the mutation is associated with fumarase deficiency | Homo sapiens |
H402C | the mutation is associated with fumarase deficiency | Homo sapiens |
I229T | missense mutation | Homo sapiens |
K230R | missense mutation | Homo sapiens |
K424R | missense mutation | Homo sapiens |
K467R | missense mutation | Homo sapiens |
L335P | missense mutation | Homo sapiens |
L507P | missense mutation | Homo sapiens |
M195T | missense mutation | Homo sapiens |
M454I | missense mutation | Homo sapiens |
N107T | missense mutation | Homo sapiens |
N188S | missense mutation | Homo sapiens |
N310Y | missense mutation | Homo sapiens |
N340K | missense mutation | Homo sapiens |
N362K | the mutation is associated with renal cell cancer | Homo sapiens |
P174R | missense mutation | Homo sapiens |
P192L | missense mutation | Homo sapiens |
P369S | the mutation is associated with fumarase deficiency | Homo sapiens |
Q142K | missense mutation | Homo sapiens |
Q185R | missense mutation | Homo sapiens |
Q376P | the mutation is associated with fumarase deficiency | Homo sapiens |
Q439P | the mutation is associated with renal cell cancer | Homo sapiens |
R101P | the mutation is associated with renal cell cancer | Homo sapiens |
R101X | the mutation is associated with renal cell cancer | Homo sapiens |
R160G | missense mutation | Homo sapiens |
R190H | the mutation is associated with renal cell cancer | Homo sapiens |
R233C | the mutation is associated with renal cell cancer | Homo sapiens |
R233H | the mutation is associated with renal cell cancer | Homo sapiens |
R233L | the mutation is associated with renal cell cancer | Homo sapiens |
R343X | the mutation is associated with renal cell cancer | Homo sapiens |
R51E | missense mutation | Homo sapiens |
S158I | missense mutation | Homo sapiens |
S187L | missense mutation | Homo sapiens |
S365G | missense mutation | Homo sapiens |
S365N | missense mutation | Homo sapiens |
S41P | the mutation is associated with renal cell cancer | Homo sapiens |
T330P | missense mutation | Homo sapiens |
V322D | missense mutation | Homo sapiens |
V394L | missense mutation | Homo sapiens |
Y465C | missense mutation | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
fumarase | - |
Homo sapiens |