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.S140R

c.420C>A

Surrounding Variants

1 paper

NM_005414.5

p.Q158K

c.472C>A

2 papers

NM_005414.5

p.T119N

c.356C>A

1 paper

NM_005414.5

p.E162K

c.484G>A

1 paper

NM_005414.5

p.R110R

c.330G>A

1 paper

NM_005414.5

p.A105V

c.314C>T

1 paper

NM_005414.5

p.P104A

c.310C>G

1 paper

NM_005414.5

p.P104S

c.310C>T

1 paper

NM_005414.5

p.G103V

c.308G>T

1 paper

NM_005414.5

p.G102V

c.305G>T

1 paper

NM_005414.5

p.S100L

c.299C>T

1 paper

NM_005414.5

p.S100A

c.298T>G

1 paper

NM_005414.5

p.I183L

c.547A>T