Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.K354E

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.K354E
c.1060A>G
Surrounding Variants
2 papers
NM_017654.4
p.T353M
c.1058C>T
1 paper
NM_017654.4
p.K350E
c.1048A>G
1 paper
NM_017654.4
p.S348fs
c.1042_1043fs
1 paper
NM_017654.4
p.S348N
c.1043G>A
1 paper
NM_017654.4
p.T347fs
c.1039_1040fs
1 paper
NM_017654.4
p.G346_T347del1
c.1038_1040delGTC
1 paper
NM_017654.4
p.G346V
c.1037G>T
2 papers
NM_017654.4
p.R344fs
c.1030_1031fs
13 papers
NM_017654.4
p.R344*
c.1030C>T
1 paper
NM_017654.4
p.R344fs
c.1030_1031fs
1 paper
NM_017654.4
p.F342S
c.1025T>C
1 paper
NM_017654.4
p.F366fs
c.1096_1097fs
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