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

1 paper

NM_000222.3

p.Y418fs

c.1252_1253fs

Surrounding Variants

2 papers

NM_000222.3

p.Y418N

c.1252T>A

2 papers

NM_000222.3

p.Y418_D419ins5

c.1254_1255ins15

3 papers

NM_000222.3

p.Y418fs

c.1252_1253fs

1 paper

NM_000222.3

p.Y418_D419insFF

c.1252_1256ins6

86 papers

NM_000222.3

p.D419del1

c.1255_1256delGAC

1 paper

NM_000222.3

p.Y418_D419delins

c.1252_1256delinsGC

2 papers

NM_000222.3

p.Y418_R420delins

c.1252_1258delinsGCAC

1 paper

NM_000222.3

p.D419insFs

c.1256_1257ins7

1 paper

NM_000222.3

p.D419ins2

c.1255_1256ins6

2 papers

NM_000222.3

p.Y418ins2

c.1253_1254ins6

1 paper

NM_000222.3

p.Y418_D419ins2

c.1254_1255ins6

2 papers

NM_000222.3

p.Y418_D419ins2

c.1254_1255ins6