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.T84S

c.250A>T

Surrounding Variants

2 papers

NM_000222.3

p.T84A

c.250A>G

1 paper

NM_000222.3

p.T84K

c.251C>A

3 papers

NM_000222.3

p.I83M

c.249C>G

21 papers

NM_000222.3

p.T84M

c.251C>T

2 papers

NM_000222.3

p.T84delFs

c.252delG

2 papers

NM_000222.3

p.T84T

c.252G>A

1 paper

NM_000222.3

p.T84T

c.252G>C

2 papers

NM_000222.3

p.I83N

c.248T>A

1 paper

NM_000222.3

p.I83L

c.247A>C

3 papers

NM_000222.3

p.I83fs

c.247_248fs

4 papers

NM_000222.3

p.E85K

c.253G>A

1 paper

NM_000222.3

p.E85*

c.253G>T