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

5 papers

NM_000222.3

p.T801I

c.2402C>T

Surrounding Variants

2 papers

NM_000222.3

p.T801P

c.2401A>C

1 paper

NM_000222.3

p.T801A

c.2401A>G

1 paper

NM_000222.3

p.H802N

c.2404C>A

3 papers

NM_000222.3

p.H802Y

c.2404C>T

1 paper

NM_000222.3

p.L800P

c.2399T>C

1 paper

NM_000222.3

p.L800F

c.2398C>T

1 paper

NM_000222.3

p.G803S

c.2407G>A

1 paper

NM_000222.3

p.G803R

c.2407G>C

1 paper

NM_000222.3

p.G803C

c.2407G>T

5 papers

NM_000222.3

p.G803D

c.2408G>A

1 paper

NM_000222.3

p.G803V

c.2408G>T

9 papers

NM_000222.3

p.L799F

c.2395C>T