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.Y578_D579del2

c.1732_1736del6

Surrounding Variants

1 paper

NM_000222.3

p.P577H

c.1730C>A

3 papers

NM_000222.3

p.Y578_D579ins0

c.1732_1737dup6

1 paper

NM_000222.3

p.P577_K581ins1

c.1731_1742dup12

2 papers

NM_000222.3

p.Y578_F591ins4

c.1732_1773dup42

2 papers

NM_000222.3

p.P577L

c.1730C>T

3 papers

NM_000222.3

p.Y578del1

c.1732_1734delTAT

1 paper

NM_000222.3

p.P577T

c.1729C>A

1 paper

NM_000222.3

p.P577_G592ins5

c.1730_1774dup45

1 paper

NM_000222.3

p.P577fs

c.1729_1730fs

17 papers

NM_000222.3

p.P577S

c.1729C>T

1 paper

NM_000222.3

p.P577_Y578del1

c.1730_1732delCTT

1 paper

NM_000222.3

p.P577P

c.1731T>C