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.P34A

c.100C>G

Surrounding Variants

1 paper

NM_000222.3

p.P34S

c.100C>T

4 papers

NM_000222.3

p.P34Q

c.101C>A

1 paper

NM_000222.3

p.P34_S35insFs

c.102_103insG

16 papers

NM_000222.3

p.P34L

c.101C>T

1 paper

NM_000222.3

p.P34P

c.102G>A

2 papers

NM_000222.3

p.P34P

c.102G>C

2 papers

NM_000222.3

p.E33K

c.97G>A

1 paper

NM_000222.3

p.E33_P34ins6

c.97_101ins18

1 paper

NM_000222.3

p.S35C

c.104C>G

1 paper

NM_000222.3

p.S35F

c.104C>T

5 papers

NM_000222.3

p.G32G

c.96G>A

1 paper

NM_000222.3

p.G32E

c.95G>A