Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.K198N

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.K198N
c.594A>T
Surrounding Variants
1 paper
NM_017654.4
p.K198N
c.594A>C
2 papers
NM_017654.4
p.K198E
c.592A>G
1 paper
NM_017654.4
p.F197S
c.590T>C
1 paper
NM_017654.4
p.P193L
c.578C>T
1 paper
NM_017654.4
p.L190I
c.568C>A
1 paper
NM_017654.4
p.G188R
c.562G>C
1 paper
NM_017654.4
p.V211fs
c.631_632fs
1 paper
NM_017654.4
p.T185K
c.554C>A
2 papers
NM_017654.4
p.M213L
c.637A>T
1 paper
NM_017654.4
p.K214E
c.640A>G
1 paper
NM_017654.4
p.Q182L
c.545A>T
4 papers
NM_017654.4
p.R221*
c.661C>T
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