1 protein found in SwissVar (28 variants)
with gene/protein name P10721
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P10721 | KIT_HUMAN | p.Val532Ile p.Met541Leu p.Met541Val p.Cys691Ser p.Ser715Asn |
| |
| P10721 | KIT_HUMAN | mast cell leukemia and mastocytosis | p.Asp816Val |
|
| P10721 | KIT_HUMAN | mast cell disease | p.Asp820Gly |
|
| P10721 | KIT_HUMAN | mastocytosis | p.Asp816Phe p.Asp816Tyr p.Glu839Lys |
|
| P10721 | KIT_HUMAN | germ cell tumor of the testis | p.Asp816Tyr p.Asn822Lys p.Ala829Pro |
|
| P10721 | KIT_HUMAN | colorectal adenocarcinoma | p.Asp737Asn p.Arg804Trp |
|
| P10721 | KIT_HUMAN | acute myeloid leukemia | p.Asp816Tyr |
|
| P10721 | KIT_HUMAN | testicular tumor | p.Asp816His |
|
| P10721 | KIT_HUMAN | piebald trait | p.Glu583Lys p.Phe584Cys p.Phe584Leu p.Gly601Arg p.Leu656Pro p.Gly664Arg p.Arg791Gly p.Arg796Gly p.Gly812Val p.Thr847Pro |
|
| P10721 | KIT_HUMAN | gastrointestinal stromal tumor | p.Lys550Ile p.Val559Asp p.Val559Ala |
|
| P10721 | KIT_HUMAN | testicular germ cell tumor | ||
| P10721 | KIT_HUMAN | leukemia, acute myelogenous |