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.S590G

c.1768A>G

Surrounding Variants

1 paper

NM_000222.3

p.S590R

c.1768A>C

1 paper

NM_000222.3

p.S590C

c.1768A>T

1 paper

NM_000222.3

p.S590N

c.1769G>A

1 paper

NM_000222.3

p.F591insFs

c.1772_1773dupTT

2 papers

NM_000222.3

p.S590I

c.1769G>T

1 paper

NM_000222.3

p.S590R

c.1770T>A

3 papers

NM_000222.3

p.L589P

c.1766T>C

1 paper

NM_000222.3

p.S590R

c.1770T>G

1 paper

NM_000222.3

p.S590_F591insFs

c.1770_1771ins7

1 paper

NM_000222.3

p.S590delFs

c.1768_1769delAG

1 paper

NM_000222.3

p.L589M

c.1765C>A

2 papers

NM_000222.3

p.L589L

c.1765C>T