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.P31_G32insGAG

c.91_95ins9

Surrounding Variants

3 papers

NM_000222.3

p.P31T

c.91C>A

2 papers

NM_000222.3

p.P31A

c.91C>G

4 papers

NM_000222.3

p.P31S

c.91C>T

2 papers

NM_000222.3

p.P31L

c.92C>T

1 paper

NM_000222.3

p.S30R

c.90T>A

1 paper

NM_000222.3

p.S30S

c.90T>C

1 paper

NM_000222.3

p.S30R

c.90T>G

1 paper

NM_000222.3

p.S30N

c.89G>A

1 paper

NM_000222.3

p.S30I

c.89G>T

1 paper

NM_000222.3

p.S30_P31insGGA

c.88_92ins9

1 paper

NM_000222.3

p.S30R

c.88A>C

2 papers

NM_000222.3

p.G32R

c.94G>A