Varaico: Literature-Extracted Genetic Variants

Gene:SAMD8
Variant:p.E389*

SAMD8

27 papers

Pfam Domains

SAM_1aa 10–76UCSCSAM domain (Sterile alpha motif)
PAP2_Caa 292–365UCSCPAP2 superfamily C-terminal

Gene Aliases

HGNC Name

sterile alpha motif domain containing 8

HGNC Alias Symbols

FLJ25082; SMSr

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001174156.2
p.E389*
c.1165G>T
Surrounding Variants
1 paper
NM_001174156.2
p.N391S
c.1172A>G
1 paper
NM_001174156.2
p.F388insFs
c.1164dupT
3 papers
NM_001174156.2
p.D348E
c.1044T>A
3 papers
NM_001174156.2
p.D348E
c.1044T>G
1 paper
NM_001174156.2
p.H344Y
c.1030C>T
1 paper
NM_001174156.2
p.N331Y
c.991A>T
2 papers
NM_001174156.2
p.V304I
c.910G>A
1 paper
NM_001174156.2
p.K264_I265Splc
c.793-45C>A
1 paper
NM_001174156.2
p.L235P
c.704T>C
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