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.Q290H

c.870A>C

Surrounding Variants

1 paper

NM_005414.5

p.Q290H

c.870A>T

1 paper

NM_005414.5

p.T302M

c.905C>T

1 paper

NM_005414.5

p.P278H

c.833C>A

1 paper

NM_005414.5

p.S310L

c.929C>T

1 paper

NM_005414.5

p.D312G

c.935A>G

1 paper

NM_005414.5

p.T315A

c.943A>G

1 paper

NM_005414.5

p.H266Y

c.796C>T

1 paper

NM_005414.5

p.E265Q

c.793G>C

1 paper

NM_005414.5

p.E321Q

c.961G>C

1 paper

NM_005414.5

p.E321V

c.962A>T

1 paper

NM_005414.5

p.S322L

c.965C>T

1 paper

NM_005414.5

p.T258S

c.773C>G