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.M836I

c.2508G>C

Surrounding Variants

2 papers

NM_000222.3

p.M836I

c.2508G>A

1 paper

NM_000222.3

p.M836_A837ins4

c.2508_2509ins12

2 papers

NM_000222.3

p.M836I

c.2508G>T

3 papers

NM_000222.3

p.A837T

c.2509G>A

1 paper

NM_000222.3

p.A837delins

c.2509_2510delinsCC

4 papers

NM_000222.3

p.M836T

c.2507T>C

1 paper

NM_000222.3

p.A837delFs

c.2509delG

2 papers

NM_000222.3

p.A837V

c.2510C>T

1 paper

NM_000222.3

p.P838ins2

c.2512_2513ins6

1 paper

NM_000222.3

p.P838S

c.2512C>T

4 papers

NM_000222.3

p.P838L

c.2513C>T

3 papers

NM_000222.3

p.W835R

c.2503T>A