Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.Q335fs

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.Q335fs
c.1003_1004fs
Surrounding Variants
1 paper
NM_017654.4
p.Q335Fs
c.1003delinsGAFs
1 paper
NM_017654.4
p.W333C
c.999G>T
1 paper
NM_017654.4
p.W333C
c.999G>C
1 paper
NM_017654.4
p.I332T
c.995T>C
1 paper
NM_017654.4
p.S340fs
c.1018_1019fs
1 paper
NM_017654.4
p.F342S
c.1025T>C
13 papers
NM_017654.4
p.R344*
c.1030C>T
1 paper
NM_017654.4
p.R344fs
c.1030_1031fs
2 papers
NM_017654.4
p.R344fs
c.1030_1031fs
1 paper
NM_017654.4
p.K324fs
c.970_971fs
1 paper
NM_017654.4
p.K324E
c.970A>G
1 paper
NM_017654.4
p.G346V
c.1037G>T
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