Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.F1217delFs

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.F1217delFs
c.3651delA
Surrounding Variants
2 papers
NM_017654.4
p.F1217fs
c.3649_3650fs
1 paper
NM_017654.4
p.P1215L
c.3644C>T
1 paper
NM_017654.4
p.P1215H
c.3644C>A
1 paper
NM_017654.4
p.N1221T
c.3662A>C
1 paper
NM_017654.4
p.R1226*
c.3676A>T
1 paper
NM_017654.4
p.Y1206C
c.3617A>G
1 paper
NM_017654.4
p.F1231insFs
c.3692_3693insTT
1 paper
NM_017654.4
p.Q1198H
c.3594A>T
1 paper
NM_017654.4
p.Q1198H
c.3594A>C
1 paper
NM_017654.4
p.G1196A
c.3587G>C
6 papers
NM_017654.4
p.A1195V
c.3584C>T
1 paper
NM_017654.4
p.Y1192*
c.3576C>G
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