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.L644P

c.1931T>C

Surrounding Variants

1 paper

NM_000222.3

p.L644L

c.1930C>T

1 paper

NM_000222.3

p.L644L

c.1932G>A

2 papers

NM_000222.3

p.S645_H650del6

c.1933_1949del18

4 papers

NM_000222.3

p.S645insFs

c.1934dupG

1 paper

NM_000222.3

p.S645R

c.1933A>C

3 papers

NM_000222.3

p.S645N

c.1934G>A

1 paper

NM_000222.3

p.S645I

c.1934G>T

8 papers

NM_000222.3

p.V643A

c.1928T>C

1 paper

NM_000222.3

p.V643I

c.1927G>A

1 paper

NM_000222.3

p.V643fs

c.1927_1928fs

2 papers

NM_000222.3

p.V643fs

c.1927_1928fs

1 paper

NM_000222.3

p.S645R

c.1935T>A