Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.H287P

SMG8

59 papers

Pfam Domains

Smg8_Smg9aa 42–985UCSCSmg8_Smg9

Gene Aliases

HGNC Name

SMG8 nonsense mediated mRNA decay factor

HGNC Previous Symbol

C17orf71

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018149.7
p.H287P
c.860A>C
Surrounding Variants
1 paper
NM_018149.7
p.A274V
c.821C>T
1 paper
NM_018149.7
p.A303T
c.907G>A
1 paper
NM_018149.7
p.S315C
c.943A>T
1 paper
NM_018149.7
p.R316C
c.946C>T
1 paper
NM_018149.7
p.I323V
c.967A>G
1 paper
NM_018149.7
p.G251S
c.751G>A
1 paper
NM_018149.7
p.P330L
c.989C>T
1 paper
NM_018149.7
p.V339I
c.1015G>A
1 paper
NM_018149.7
p.G349C
c.1045G>T
1 paper
NM_018149.7
p.R225fs
c.673_674fs
1 paper
NM_018149.7
p.R225_V226delFs
c.674_677del4
2 papers
NM_018149.7
p.D220V
c.659A>T
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