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

2 papers

NM_000222.3

p.F681L

c.2043T>A

Surrounding Variants

2 papers

NM_000222.3

p.F681L

c.2043T>G

2 papers

NM_000222.3

p.L682fs

c.2044_2045fs

3 papers

NM_000222.3

p.F681I

c.2041T>A

1 paper

NM_000222.3

p.L682*

c.2045T>A

2 papers

NM_000222.3

p.F681L

c.2041T>C

4 papers

NM_000222.3

p.L682F

c.2046G>C

4 papers

NM_000222.3

p.L682F

c.2046G>T

8 papers

NM_000222.3

p.N680K

c.2040T>A

8 papers

NM_000222.3

p.N680K

c.2040T>G

1 paper

NM_000222.3

p.R683G

c.2047A>G

1 paper

NM_000222.3

p.N680I

c.2039A>T

1 paper

NM_000222.3

p.N680D

c.2038A>G