Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.D799H

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.D799H
c.2395G>C
Surrounding Variants
1 paper
NM_017654.4
p.D799A
c.2396A>C
1 paper
NM_017654.4
p.D800N
c.2398G>A
1 paper
NM_017654.4
p.D800A
c.2399A>C
1 paper
NM_017654.4
p.E802Q
c.2404G>C
1 paper
NM_017654.4
p.E803Q
c.2407G>C
1 paper
NM_017654.4
p.V792I
c.2374G>A
1 paper
NM_017654.4
p.V807I
c.2419G>A
6 papers
NM_017654.4
p.T778I
c.2333C>T
4 papers
NM_017654.4
p.K821M
c.2462A>T
2 papers
NM_017654.4
p.Q776K
c.2326C>A
3 papers
NM_017654.4
p.R824*
c.2470C>T
2 papers
NM_017654.4
p.I773M
c.2319T>G
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