Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.F465L

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.F465L
c.1395T>A
Surrounding Variants
3 papers
NM_017654.4
p.F465L
c.1395T>G
3 papers
NM_017654.4
p.F465L
c.1393T>C
2 papers
NM_017654.4
p.Y469C
c.1406A>G
1 paper
NM_017654.4
p.Y469S
c.1406A>C
16 papers
NM_017654.4
p.R459Q
c.1376G>A
1 paper
NM_017654.4
p.R459*
c.1375C>T
1 paper
NM_017654.4
p.Q472Q
c.1416G>A
2 papers
NM_017654.4
p.E457A
c.1370A>C
1 paper
NM_017654.4
p.E457K
c.1369G>A
1 paper
NM_017654.4
p.K456delFs
c.1368delT
1 paper
NM_017654.4
p.T475R
c.1424C>G
1 paper
NM_017654.4
p.A454S
c.1360G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."