Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R824Q

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
17 papers
NM_017654.4
p.R824Q
c.2471G>A
Surrounding Variants
3 papers
NM_017654.4
p.R824*
c.2470C>T
4 papers
NM_017654.4
p.K821M
c.2462A>T
1 paper
NM_017654.4
p.Y825_K827del3
c.2473_2480del9
1 paper
NM_017654.4
p.P828R
c.2483C>G
8 papers
NM_017654.4
p.N834Y
c.2500A>T
1 paper
NM_017654.4
p.N834S
c.2501A>G
1 paper
NM_017654.4
p.C835R
c.2503T>C
1 paper
NM_017654.4
p.C835S
c.2503T>A
1 paper
NM_017654.4
p.C835S
c.2504G>C
2 papers
NM_017654.4
p.S838L
c.2513C>T
1 paper
NM_017654.4
p.V807I
c.2419G>A
1 paper
NM_017654.4
p.S844delFs
c.2530delT
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