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.R804L

c.2411G>T

Surrounding Variants

9 papers

NM_000222.3

p.R804Q

c.2411G>A

1 paper

NM_000222.3

p.R804G

c.2410C>G

17 papers

NM_000222.3

p.R804W

c.2410C>T

1 paper

NM_000222.3

p.I805V

c.2413A>G

5 papers

NM_000222.3

p.G803D

c.2408G>A

1 paper

NM_000222.3

p.G803V

c.2408G>T

1 paper

NM_000222.3

p.I805_I808delFs

c.2415_2422del8

5 papers

NM_000222.3

p.I805I

c.2415C>T

1 paper

NM_000222.3

p.G803S

c.2407G>A

1 paper

NM_000222.3

p.G803R

c.2407G>C

1 paper

NM_000222.3

p.G803C

c.2407G>T

1 paper

NM_000222.3

p.T806fs

c.2416_2417fs