Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.E1325K

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.E1325K
c.3973G>A
Surrounding Variants
1 paper
NM_017654.4
p.K1322E
c.3964A>G
2 papers
NM_017654.4
p.V1329E
c.3986T>A
1 paper
NM_017654.4
p.L1319I
c.3955C>A
1 paper
NM_017654.4
p.L1339*
c.4016T>G
1 paper
NM_017654.4
p.L1339*
c.4016T>A
1 paper
NM_017654.4
p.K1302_I1306del5
c.3904_3917del15
1 paper
NM_017654.4
p.K1353E
c.4057A>G
13 papers
NM_017654.4
p.R1293Q
c.3878G>A
15 papers
NM_017654.4
p.R1293W
c.3877C>T
1 paper
NM_017654.4
p.T1292I
c.3875C>T
1 paper
NM_017654.4
p.M1362I
c.4086G>T
1 paper
NM_017654.4
p.M1362I
c.4086G>C
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