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.S28Y

c.83C>A

Surrounding Variants

3 papers

NM_000222.3

p.S28F

c.83C>T

1 paper

NM_000222.3

p.S28S

c.84T>A

1 paper

NM_000222.3

p.S28A

c.82T>G

1 paper

NM_000222.3

p.V29_G32del4

c.85_95del12

1 paper

NM_000222.3

p.S28del1

c.82_83delTCT

1 paper

NM_000222.3

p.V29L

c.85G>T

1 paper

NM_000222.3

p.P27L

c.80C>T

1 paper

NM_000222.3

p.V29E

c.86T>A

1 paper

NM_000222.3

p.V29A

c.86T>C

4 papers

NM_000222.3

p.V29G

c.86T>G

1 paper

NM_000222.3

p.P27_S28insGTA

c.79_83ins9

3 papers

NM_000222.3

p.P27S

c.79C>T