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.N587D

c.1759A>G

Surrounding Variants

1 paper

NM_000222.3

p.N587H

c.1759A>C

1 paper

NM_000222.3

p.N587Y

c.1759A>T

1 paper

NM_000222.3

p.R586_N587ins13

c.1758_1759ins39

2 papers

NM_000222.3

p.N587K

c.1761C>A

1 paper

NM_000222.3

p.N587_R588ins13

c.1761_1762ins39

2 papers

NM_000222.3

p.N587K

c.1761C>G

1 paper

NM_000222.3

p.N587N

c.1761C>T

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

2 papers

NM_000222.3

p.R586_N587ins11

c.1756_1760ins33