Varaico: Literature-Extracted Genetic Variants

KIT

4,821 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical...

Pfam Domains

igaa 219–304UCSCImmunoglobulin domain

Ig_PDGFR_d4aa 421–542UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 590–924UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

KIT proto-oncogene, receptor tyrosine kinase

HGNC Previous Symbol

PBT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000222.3

p.D479H

c.1435G>C

Surrounding Variants

1 paper

NM_000222.3

p.D479N

c.1435G>A

1 paper

NM_000222.3

p.D479fs

c.1435_1436fs

1 paper

NM_000222.3

p.D479Y

c.1435G>T

1 paper

NM_000222.3

p.D479fs

c.1435_1436fs

1 paper

NM_000222.3

p.I478K

c.1433T>A

1 paper

NM_000222.3

p.I478_T488delFs

c.1434_1462del29

1 paper

NM_000222.3

p.I478V

c.1432A>G

1 paper

NM_000222.3

p.S480fs

c.1438_1439fs

1 paper

NM_000222.3

p.S480delFs

c.1439delC

2 papers

NM_000222.3

p.S480fs

c.1438_1439fs

2 papers

NM_000222.3

p.S480F

c.1439C>T

1 paper

NM_000222.3

p.I478delFs

c.1432delA