Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.Q1198H

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.Q1198H
c.3594A>T
Surrounding Variants
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
1 paper
NM_017654.4
p.Y1192*
c.3576C>A
1 paper
NM_017654.4
p.Y1206C
c.3617A>G
1 paper
NM_017654.4
p.D1190E
c.3570T>G
1 paper
NM_017654.4
p.D1190E
c.3570T>A
1 paper
NM_017654.4
p.R1188P
c.3563G>C
2 papers
NM_017654.4
p.R1188Q
c.3563G>A
1 paper
NM_017654.4
p.R1187fs
c.3559_3560fs
1 paper
NM_017654.4
p.R1187delFs
c.3559delT
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