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.Y568*

c.1704T>G

Surrounding Variants

1 paper

NM_000222.3

p.Y568*

c.1704T>A

1 paper

NM_000222.3

p.V569insFs

c.1705_1706insG

1 paper

NM_000222.3

p.V569_T574del0

c.1705_1722del18

2 papers

NM_000222.3

p.Y568S

c.1703A>C

7 papers

NM_000222.3

p.Y568C

c.1703A>G

9 papers

NM_000222.3

p.Y568F

c.1703A>T

6 papers

NM_000222.3

p.V569_L576del0

c.1705_1728del24

5 papers

NM_000222.3

p.V569I

c.1705G>A

3 papers

NM_000222.3

p.V569L

c.1705G>C

1 paper

NM_000222.3

p.V569_D579insFs

c.1706_1737dup32

1 paper

NM_000222.3

p.V569F

c.1705G>T

2 papers

NM_000222.3

p.Y570delFs

c.1708delT