Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R230H

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.R230H
c.689G>A
Surrounding Variants
1 paper
NM_017654.4
p.R230C
c.688C>T
1 paper
NM_017654.4
p.N232_G233insAA
c.694_698ins6
1 paper
NM_017654.4
p.T234S
c.700A>T
1 paper
NM_017654.4
p.T234I
c.701C>T
1 paper
NM_017654.4
p.T234S
c.701C>G
1 paper
NM_017654.4
p.H236Y
c.706C>T
1 paper
NM_017654.4
p.F237fs
c.709_710fs
1 paper
NM_017654.4
p.F222L
c.666T>G
1 paper
NM_017654.4
p.F222L
c.666T>A
1 paper
NM_017654.4
p.F222L
c.664T>C
1 paper
NM_017654.4
p.R221Q
c.662G>A
4 papers
NM_017654.4
p.R221*
c.661C>T
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