Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.S602*

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.S602*
c.1805C>A
Surrounding Variants
1 paper
NM_017654.4
p.S602*
c.1805C>G
1 paper
NM_017654.4
p.E600_I601delFs
c.1800_1801delTT
2 papers
NM_017654.4
p.Q604*
c.1810C>T
1 paper
NM_017654.4
p.E600*
c.1798G>T
1 paper
NM_017654.4
p.Q598*
c.1792C>T
1 paper
NM_017654.4
p.R593S
c.1779A>T
1 paper
NM_017654.4
p.R593S
c.1779A>C
1 paper
NM_017654.4
p.N615Y
c.1843A>T
1 paper
NM_017654.4
p.I618T
c.1853T>C
1 paper
NM_017654.4
p.L619I
c.1855C>A
1 paper
NM_017654.4
p.L619R
c.1856T>G
2 papers
NM_017654.4
p.K620K
c.1860A>G
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