Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.G375insFs

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
2 papers
NM_018149.7
p.G375insFs
c.1125dupG
Surrounding Variants
1 paper
NM_018149.7
p.S374insFs
c.1121_1122insG
1 paper
NM_018149.7
p.P376fs
c.1126_1127fs
2 papers
NM_018149.7
p.R387*
c.1159C>T
1 paper
NM_018149.7
p.V361E
c.1082T>A
1 paper
NM_018149.7
p.H393Y
c.1177C>T
1 paper
NM_018149.7
p.G349C
c.1045G>T
1 paper
NM_018149.7
p.D407N
c.1219G>A
1 paper
NM_018149.7
p.T409_L410delins
c.1227_1230delinsCCTAGAAAAC
1 paper
NM_018149.7
p.V339I
c.1015G>A
1 paper
NM_018149.7
p.P330L
c.989C>T
1 paper
NM_018149.7
p.I323V
c.967A>G
1 paper
NM_018149.7
p.D428N
c.1282G>A
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