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.R586_N587ins13

c.1756_1760ins39

Surrounding Variants

2 papers

NM_000222.3

p.R586_N587ins11

c.1756_1760ins33

1 paper

NM_000222.3

p.R586*

c.1756A>T

1 paper

NM_000222.3

p.P585_R586ins10

c.1755_1756ins30

1 paper

NM_000222.3

p.P585_R586ins14

c.1755_1756ins42

1 paper

NM_000222.3

p.P585P

c.1755C>G

10 papers

NM_000222.3

p.P585P

c.1755C>T

1 paper

NM_000222.3

p.R586del1

c.1756_1758delAGA

8 papers

NM_000222.3

p.R586K

c.1757G>A

1 paper

NM_000222.3

p.R586T

c.1757G>C

1 paper

NM_000222.3

p.R586ins11

c.1757_1758ins33

3 papers

NM_000222.3

p.R586I

c.1757G>T

1 paper

NM_000222.3

p.R586_N587ins13

c.1758_1759ins39