Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.S129insFs

SAMD9

342 papers

RefSeq Summary

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this ...

Pfam Domains

SAM_1aa 12–75UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 9

HGNC Alias Symbols

KIAA2004; FLJ20073

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017654.4
p.S129insFs
c.386dupG
Surrounding Variants
1 paper
NM_017654.4
p.G134A
c.401G>C
1 paper
NM_017654.4
p.P125S
c.373C>T
1 paper
NM_017654.4
p.E141K
c.421G>A
1 paper
NM_017654.4
p.K117E
c.349A>G
4 papers
NM_017654.4
p.I143T
c.428T>C
1 paper
NM_017654.4
p.D145G
c.434A>G
1 paper
NM_017654.4
p.T150S
c.448A>T
1 paper
NM_017654.4
p.R106H
c.317G>A
1 paper
NM_017654.4
p.R106C
c.316C>T
2 papers
NM_017654.4
p.Q154*
c.460C>T
1 paper
NM_017654.4
p.K104N
c.312G>T
1 paper
NM_017654.4
p.K104N
c.312G>C
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