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

3 papers

NM_000222.3

p.S692L

c.2075C>T

Surrounding Variants

2 papers

NM_000222.3

p.S692*

c.2075C>A

2 papers

NM_000222.3

p.S692*

c.2075C>G

2 papers

NM_000222.3

p.K693T

c.2078A>C

1 paper

NM_000222.3

p.C691Y

c.2072G>A

3 papers

NM_000222.3

p.C691S

c.2072G>C

1 paper

NM_000222.3

p.K693N

c.2079G>C

1 paper

NM_000222.3

p.K693N

c.2079G>T

1 paper

NM_000222.3

p.Q694delFs

c.2080delC

3 papers

NM_000222.3

p.C691S

c.2071T>A

1 paper

NM_000222.3

p.Q694K

c.2080C>A

1 paper

NM_000222.3

p.Q694*

c.2080C>T

1 paper

NM_000222.3

p.C691_A701del11

c.2071_2102del33