Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.L70I

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.L70I
c.208C>A
Surrounding Variants
1 paper
NM_017654.4
p.K72K
c.216A>G
7 papers
NM_017654.4
p.R75W
c.223C>T
1 paper
NM_017654.4
p.A64T
c.190G>A
1 paper
NM_017654.4
p.P63S
c.187C>T
1 paper
NM_017654.4
p.T77P
c.229A>C
1 paper
NM_017654.4
p.A78insFs
c.232_233insAA
1 paper
NM_017654.4
p.H61_G62delins
c.183_184delinsCT
1 paper
NM_017654.4
p.T60A
c.178A>G
1 paper
NM_017654.4
p.E80fs
c.238_239fs
1 paper
NM_017654.4
p.D81N
c.241G>A
1 paper
NM_017654.4
p.M57delFs
c.170_171delCA
3 papers
NM_017654.4
p.S86F
c.257C>T
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