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.R683S

c.2049A>T

Surrounding Variants

1 paper

NM_000222.3

p.R683S

c.2049A>C

1 paper

NM_000222.3

p.R684G

c.2050A>G

1 paper

NM_000222.3

p.R684*

c.2050A>T

1 paper

NM_000222.3

p.R683G

c.2047A>G

1 paper

NM_000222.3

p.R684_K685insFs

c.2052_2053insA

4 papers

NM_000222.3

p.L682F

c.2046G>C

4 papers

NM_000222.3

p.L682F

c.2046G>T

1 paper

NM_000222.3

p.K685E

c.2053A>G

1 paper

NM_000222.3

p.L682*

c.2045T>A

1 paper

NM_000222.3

p.K685R

c.2054A>G

2 papers

NM_000222.3

p.L682fs

c.2044_2045fs

1 paper

NM_000222.3

p.K685K

c.2055A>G