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.S453F

c.1358C>T

Surrounding Variants

1 paper

NM_000222.3

p.A452V

c.1355C>T

1 paper

NM_000222.3

p.A452_V454del0

c.1356_1361del6

1 paper

NM_000222.3

p.A452T

c.1354G>A

1 paper

NM_000222.3

p.L455M

c.1363C>A

13 papers

NM_000222.3

p.S451C

c.1352C>G

3 papers

NM_000222.3

p.S451F

c.1352C>T

1 paper

NM_000222.3

p.S451Fs

c.1352delinsTTCCTFs

1 paper

NM_000222.3

p.S451_A452Fs

c.1351_1356delinsTTCCTFs

1 paper

NM_000222.3

p.V457_P467del11

c.1369_1400del33

2 papers

NM_000222.3

p.S451P

c.1351T>C

7 papers

NM_000222.3

p.P456S

c.1366C>T

1 paper

NM_000222.3

p.P456Q

c.1367C>A