Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.K242E

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
3 papers
NM_017654.4
p.K242E
c.724A>G
Surrounding Variants
1 paper
NM_017654.4
p.H244R
c.731A>G
1 paper
NM_017654.4
p.G245V
c.734G>T
1 paper
NM_017654.4
p.F237fs
c.709_710fs
1 paper
NM_017654.4
p.I247T
c.740T>C
1 paper
NM_017654.4
p.H236Y
c.706C>T
1 paper
NM_017654.4
p.V248V
c.744T>A
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.T234S
c.700A>T
1 paper
NM_017654.4
p.G249_I250del0
c.745_750del6
1 paper
NM_017654.4
p.G249_K251del0
c.746_751del6
1 paper
NM_017654.4
p.N232_G233insAA
c.694_698ins6
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