Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R285*

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
2 papers
NM_017654.4
p.R285*
c.853C>T
Surrounding Variants
1 paper
NM_017654.4
p.I284_R285delFs
c.852_855del4
1 paper
NM_017654.4
p.E286A
c.857A>C
2 papers
NM_017654.4
p.P287T
c.859C>A
1 paper
NM_017654.4
p.K282*
c.844A>T
2 papers
NM_017654.4
p.F289S
c.866T>C
1 paper
NM_017654.4
p.A280T
c.838G>A
1 paper
NM_017654.4
p.E291E
c.873A>G
1 paper
NM_017654.4
p.H275_Q276del1
c.825_827delTGA
1 paper
NM_017654.4
p.I268T
c.803T>C
1 paper
NM_017654.4
p.L266M
c.796C>A
1 paper
NM_017654.4
p.D308N
c.922G>A
1 paper
NM_017654.4
p.A259D
c.776C>A
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