Varaico: Literature-Extracted Genetic Variants

SKIL

113 papers

RefSeq Summary

The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encod...

Pfam Domains

Ski_Sno_DHDaa 126–235UCSCSKI/SNO/DAC Dachshund homology domain

c-SKI_SMAD_bindaa 261–355UCSCc-SKI Smad4 binding domain

Gene Aliases

HGNC Name

SKI like proto-oncogene

HGNC Alias Symbols

SNO; SnoN; SnoA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005414.5

p.V509L

c.1525G>C

Surrounding Variants

1 paper

NM_005414.5

p.A511delins

c.1533delinsGGAA

1 paper

NM_005414.5

p.A512T

c.1534G>A

2 papers

NM_005414.5

p.G528E

c.1583G>A

1 paper

NM_005414.5

p.M557delins

c.1671delinsGGAA

1 paper

NM_005414.5

p.M561I

c.1683G>A

1 paper

NM_005414.5

p.M561I

c.1683G>C

1 paper

NM_005414.5

p.M561I

c.1683G>T

1 paper

NM_005414.5

p.A590V

c.1769C>T

1 paper

NM_005414.5

p.E604E

c.1812G>A

1 paper

NM_005414.5

p.R637S

c.1911G>C

1 paper

NM_005414.5

p.R637S

c.1911G>T

1 paper

NM_005414.5

p.D646N

c.1936G>A