Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R1529H

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
3 papers
NM_017654.4
p.R1529H
c.4586G>A
Surrounding Variants
3 papers
NM_017654.4
p.R1529C
c.4585C>T
1 paper
NM_017654.4
p.R1533*
c.4597C>T
1 paper
NM_017654.4
p.R1533Q
c.4598G>A
1 paper
NM_017654.4
p.E1521_V1523del3
c.4561_4568del9
1 paper
NM_017654.4
p.E1520*
c.4558G>T
2 papers
NM_017654.4
p.L1539I
c.4615T>A
1 paper
NM_017654.4
p.S1514N
c.4541G>A
3 papers
NM_017654.4
p.A1556T
c.4666G>A
1 paper
NM_017654.4
p.D1499G
c.4496A>G
1 paper
NM_017654.4
p.I1498T
c.4493T>C
19 papers
NM_017654.4
p.K1495E
c.4483A>G
2 papers
NM_017654.4
p.G1564S
c.4690G>A
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