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

5 papers

NM_000222.3

p.V569I

c.1705G>A

Surrounding Variants

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

1 paper

NM_000222.3

p.V569delFs

c.1706_1707delTT

1 paper

NM_000222.3

p.V569_Q575del0

c.1706_1723del18

9 papers

NM_000222.3

p.Y570_L576del7

c.1708_1727del21

1 paper

NM_000222.3

p.V569_Y578delFs

c.1706_1733del28

1 paper

NM_000222.3

p.Y568*

c.1704T>A

4 papers

NM_000222.3

p.V569A

c.1706T>C

11 papers

NM_000222.3

p.V569G

c.1706T>G

1 paper

NM_000222.3

p.Y568*

c.1704T>G