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

4 papers

NM_000222.3

p.E635G

c.1904A>G

Surrounding Variants

1 paper

NM_000222.3

p.E635V

c.1904A>T

4 papers

NM_000222.3

p.E635K

c.1903G>A

1 paper

NM_000222.3

p.E635*

c.1903G>T

1 paper

NM_000222.3

p.E635fs

c.1903_1904fs

2 papers

NM_000222.3

p.A636T

c.1906G>A

1 paper

NM_000222.3

p.R634R

c.1902G>A

1 paper

NM_000222.3

p.A636P

c.1906G>C

3 papers

NM_000222.3

p.A636V

c.1907C>T

13 papers

NM_000222.3

p.R634Q

c.1901G>A

2 papers

NM_000222.3

p.R634L

c.1901G>T

1 paper

NM_000222.3

p.A636A

c.1908C>A

54 papers

NM_000222.3

p.R634W

c.1900C>T