Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9

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
1–12 of 508 variants
19 papers
NM_017654.4
p.K1495E
c.4483A>G
18 papers
NM_017654.4
p.E1136Q
c.3406G>C
17 papers
NM_017654.4
p.R824Q
c.2471G>A
16 papers
NM_017654.4
p.R459Q
c.1376G>A
15 papers
NM_017654.4
p.E974K
c.2920G>A
15 papers
NM_017654.4
p.R1293W
c.3877C>T
14 papers
NM_017654.4
p.R982C
c.2944C>T
13 papers
NM_017654.4
p.R344*
c.1030C>T
13 papers
NM_017654.4
p.R982H
c.2945G>A
13 papers
NM_017654.4
p.R1293Q
c.3878G>A
12 papers
NM_017654.4
p.R685Q
c.2054G>A
10 papers
NM_017654.4
p.D769N
c.2305G>A
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