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.N250D

c.748A>G

Surrounding Variants

2 papers

NM_000222.3

p.N250S

c.749A>G

1 paper

NM_000222.3

p.E249G

c.746A>G

1 paper

NM_000222.3

p.E249_S251delFs

c.747_753del7

1 paper

NM_000222.3

p.N250K

c.750C>A

1 paper

NM_000222.3

p.N250K

c.750C>G

1 paper

NM_000222.3

p.S251R

c.751A>C

1 paper

NM_000222.3

p.S251G

c.751A>G

3 papers

NM_000222.3

p.S251C

c.751A>T

1 paper

NM_000222.3

p.S251delFs

c.752delG

1 paper

NM_000222.3

p.E249K

c.745G>A

1 paper

NM_000222.3

p.E249Q

c.745G>C

1 paper

NM_000222.3

p.E249_N250del1

c.746_748delAAA