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.H40fs

c.118_119fs

Surrounding Variants

1 paper

NM_000222.3

p.H40N

c.118C>A

2 papers

NM_000222.3

p.H40fs

c.118_119fs

2 papers

NM_000222.3

p.H40Y

c.118C>T

1 paper

NM_000222.3

p.H40delFs

c.119_120delAT

1 paper

NM_000222.3

p.H40R

c.119A>G

1 paper

NM_000222.3

p.H40L

c.119A>T

4 papers

NM_000222.3

p.I39M

c.117C>G

5 papers

NM_000222.3

p.H40Q

c.120T>A

6 papers

NM_000222.3

p.H40Q

c.120T>G

1 paper

NM_000222.3

p.I39_H40insGGC

c.115_119ins9

2 papers

NM_000222.3

p.I39V

c.115A>G

1 paper

NM_000222.3

p.I39F

c.115A>T