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

1–12 of 70 variants

3 papers

NM_005414.5

p.A38V

c.113C>T

2 papers

NM_005414.5

p.K50R

c.149A>G

2 papers

NM_005414.5

p.T119N

c.356C>A

2 papers

NM_005414.5

p.K383R

c.1148A>G

2 papers

NM_005414.5

p.G528E

c.1583G>A

1 paper

NM_005414.5

p.M1_T6delFs

c.1_16del16

1 paper

NM_005414.5

p.M1_K16del16

c.1_47del48

1 paper

NM_005414.5

p.V11I

c.31G>A

1 paper

NM_005414.5

p.G13A

c.38G>C

1 paper

NM_005414.5

p.G22R

c.64G>A

1 paper

NM_005414.5

p.G22R

c.64G>C

1 paper

NM_005414.5

p.A29fs

c.85_86fs