Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R685Q

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
12 papers
NM_017654.4
p.R685Q
c.2054G>A
Surrounding Variants
3 papers
NM_017654.4
p.R685*
c.2053C>T
1 paper
NM_017654.4
p.G686C
c.2056G>T
1 paper
NM_017654.4
p.G686S
c.2056G>A
1 paper
NM_017654.4
p.G686D
c.2057G>A
1 paper
NM_017654.4
p.V689L
c.2065G>T
1 paper
NM_017654.4
p.V689L
c.2065G>C
2 papers
NM_017654.4
p.V689A
c.2066T>C
5 papers
NM_017654.4
p.K676E
c.2026A>G
1 paper
NM_017654.4
p.F672L
c.2016C>G
1 paper
NM_017654.4
p.F672L
c.2016C>A
1 paper
NM_017654.4
p.S698F
c.2093C>T
1 paper
NM_017654.4
p.F672L
c.2014T>C
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