Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.Q1445del1

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
2 papers
NM_017654.4
p.Q1445del1
c.4333_4334delTTG
Surrounding Variants
1 paper
NM_017654.4
p.E1455fs
c.4363_4364fs
1 paper
NM_017654.4
p.P1431L
c.4292C>T
1 paper
NM_017654.4
p.E1430K
c.4288G>A
1 paper
NM_017654.4
p.H1470Y
c.4408C>T
1 paper
NM_017654.4
p.H1472Q
c.4416T>G
1 paper
NM_017654.4
p.H1472Q
c.4416T>A
3 papers
NM_017654.4
p.R1473H
c.4418G>A
2 papers
NM_017654.4
p.T1474P
c.4420A>C
1 paper
NM_017654.4
p.I1478T
c.4433T>C
4 papers
NM_017654.4
p.A1479S
c.4435G>T
1 paper
NM_017654.4
p.E1409K
c.4225G>A
1 paper
NM_017654.4
p.K1487R
c.4460A>G
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