Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.L641P

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.L641P
c.1922T>C
Surrounding Variants
2 papers
NM_017654.4
p.K643E
c.1927A>G
2 papers
NM_017654.4
p.L642del1
c.1924_1925delCAG
2 papers
NM_017654.4
p.I635_G636delFs
c.1903_1907del5
1 paper
NM_017654.4
p.E645insFs
c.1934dupA
1 paper
NM_017654.4
p.S627delFs
c.1880delG
1 paper
NM_017654.4
p.S627fs
c.1879_1880fs
1 paper
NM_017654.4
p.T625delFs
c.1875delA
2 papers
NM_017654.4
p.N658D
c.1972A>G
1 paper
NM_017654.4
p.S623Y
c.1868C>A
2 papers
NM_017654.4
p.K620K
c.1860A>G
1 paper
NM_017654.4
p.L619R
c.1856T>G
1 paper
NM_017654.4
p.L619I
c.1855C>A
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