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.Y823*

c.2469T>A

Surrounding Variants

2 papers

NM_000222.3

p.Y823*

c.2469T>G

5 papers

NM_000222.3

p.Y823S

c.2468A>C

24 papers

NM_000222.3

p.Y823C

c.2468A>G

13 papers

NM_000222.3

p.Y823F

c.2468A>T

1 paper

NM_000222.3

p.V824_V825del2

c.2470_2474del6

1 paper

NM_000222.3

p.Y823_N828delFs

c.2469_2484del16

1 paper

NM_000222.3

p.V824M

c.2470G>A

2 papers

NM_000222.3

p.V824L

c.2470G>C

1 paper

NM_000222.3

p.V824ins5

c.2470_2471ins15

2 papers

NM_000222.3

p.V824L

c.2470G>T

12 papers

NM_000222.3

p.Y823N

c.2467T>A

2 papers

NM_000222.3

p.V824A

c.2471T>C