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.A248insFs

c.743_744insA

Surrounding Variants

1 paper

NM_005414.5

p.V245I

c.733G>A

1 paper

NM_005414.5

p.T258S

c.772A>T

1 paper

NM_005414.5

p.T258S

c.773C>G

1 paper

NM_005414.5

p.E265Q

c.793G>C

1 paper

NM_005414.5

p.H266Y

c.796C>T

1 paper

NM_005414.5

p.P278H

c.833C>A

1 paper

NM_005414.5

p.N214S

c.641A>G

1 paper

NM_005414.5

p.P212Q

c.635C>A

1 paper

NM_005414.5

p.Q290H

c.870A>C

1 paper

NM_005414.5

p.Q290H

c.870A>T

1 paper

NM_005414.5

p.T198N

c.593C>A

1 paper

NM_005414.5

p.T302M

c.905C>T