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.E249K

c.745G>A

Surrounding Variants

1 paper

NM_000222.3

p.E249Q

c.745G>C

1 paper

NM_000222.3

p.E249_N250del1

c.746_748delAAA

1 paper

NM_000222.3

p.E249_N250delFs

c.746_750del5

1 paper

NM_000222.3

p.E249_S251del0

c.746_751del6

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.E249_N250del0

c.745_750del6

4 papers

NM_000222.3

p.R248K

c.743G>A

1 paper

NM_000222.3

p.R248T

c.743G>C

1 paper

NM_000222.3

p.R248fs

c.742_743fs

1 paper

NM_000222.3

p.R248G

c.742A>G

1 paper

NM_000222.3

p.N250D

c.748A>G