Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.L483V

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.L483V
c.1447C>G
Surrounding Variants
1 paper
NM_017654.4
p.I480_S481del2
c.1438_1442del6
1 paper
NM_017654.4
p.N484S
c.1451A>G
1 paper
NM_017654.4
p.Y486S
c.1457A>C
4 papers
NM_017654.4
p.T479M
c.1436C>T
1 paper
NM_017654.4
p.T475R
c.1424C>G
1 paper
NM_017654.4
p.I492insFs
c.1474dupA
1 paper
NM_017654.4
p.Q472Q
c.1416G>A
1 paper
NM_017654.4
p.C494*
c.1482C>A
1 paper
NM_017654.4
p.G496D
c.1487G>A
2 papers
NM_017654.4
p.Y469C
c.1406A>G
1 paper
NM_017654.4
p.Y469S
c.1406A>C
1 paper
NM_017654.4
p.L498V
c.1492T>G
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