Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.L211P

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.L211P
c.632T>C
Surrounding Variants
1 paper
NM_018149.7
p.L211F
c.631C>T
3 papers
NM_018149.7
p.H208R
c.623A>G
2 papers
NM_018149.7
p.D220V
c.659A>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.H186Q
c.558C>A
2 papers
NM_018149.7
p.H186Q
c.558C>G
1 paper
NM_018149.7
p.G175E
c.524G>A
1 paper
NM_018149.7
p.G251S
c.751G>A
1 paper
NM_018149.7
p.L162P
c.485T>C
1 paper
NM_018149.7
p.A274V
c.821C>T
2 papers
NM_018149.7
p.K147insFs
c.441dupA
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