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

4 papers

NM_000222.3

p.I571L

c.1711A>C

Surrounding Variants

2 papers

NM_000222.3

p.H580ins9

c.1738_1739ins27

4 papers

NM_000222.3

p.I571V

c.1711A>G

4 papers

NM_000222.3

p.I571L

c.1711A>T

2 papers

NM_000222.3

p.Y570*

c.1710C>A

1 paper

NM_000222.3

p.I571_D579ins3

c.1711_1737dup27

1 paper

NM_000222.3

p.Y570*

c.1710C>G

1 paper

NM_000222.3

p.I571del1

c.1711_1712delATA

2 papers

NM_000222.3

p.I571_L576del0

c.1711_1728del18

1 paper

NM_000222.3

p.I571K

c.1712T>A

2 papers

NM_000222.3

p.I571T

c.1712T>C

1 paper

NM_000222.3

p.I571R

c.1712T>G

2 papers

NM_000222.3

p.P573_T574ins2

c.1719_1720ins6