Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.N1003S

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
4 papers
NM_017654.4
p.N1003S
c.3008A>G
Surrounding Variants
1 paper
NM_017654.4
p.L1002P
c.3005T>C
1 paper
NM_017654.4
p.Q1006delFs
c.3017_3018delTT
1 paper
NM_017654.4
p.E1014K
c.3040G>A
1 paper
NM_017654.4
p.E1014D
c.3042G>T
1 paper
NM_017654.4
p.E1014D
c.3042G>C
1 paper
NM_017654.4
p.E990D
c.2970G>T
1 paper
NM_017654.4
p.E990D
c.2970G>C
1 paper
NM_017654.4
p.F1017V
c.3049T>G
1 paper
NM_017654.4
p.A989T
c.2965G>A
1 paper
NM_017654.4
p.I988M
c.2964T>G
1 paper
NM_017654.4
p.S986C
c.2957C>G
1 paper
NM_017654.4
p.S986Y
c.2957C>A
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