Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.V45F

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.V45F
c.133G>T
Surrounding Variants
1 paper
NM_017654.4
p.V45fs
c.133_134fs
1 paper
NM_017654.4
p.Q39*
c.115C>T
1 paper
NM_017654.4
p.E38A
c.113A>C
1 paper
NM_017654.4
p.T37I
c.110C>T
1 paper
NM_017654.4
p.E34K
c.100G>A
2 papers
NM_017654.4
p.R33K
c.98G>A
2 papers
NM_017654.4
p.R33G
c.97A>G
3 papers
NM_017654.4
p.H32L
c.95A>T
1 paper
NM_017654.4
p.M57delFs
c.170_171delCA
1 paper
NM_017654.4
p.Q30*
c.88C>T
1 paper
NM_017654.4
p.T60A
c.178A>G
1 paper
NM_017654.4
p.D29E
c.87C>A
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