Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.N498S

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.N498S
c.1493A>G
Surrounding Variants
1 paper
NM_018149.7
p.S476T
c.1426T>A
1 paper
NM_018149.7
p.H524Y
c.1570C>T
2 papers
NM_018149.7
p.A529S
c.1585G>T
1 paper
NM_018149.7
p.Q537H
c.1611A>C
1 paper
NM_018149.7
p.Q537H
c.1611A>T
1 paper
NM_018149.7
p.A452P
c.1354G>C
1 paper
NM_018149.7
p.L565I
c.1693C>A
1 paper
NM_018149.7
p.D429fs
c.1285_1286fs
1 paper
NM_018149.7
p.D429delFs
c.1285_1286delGA
1 paper
NM_018149.7
p.D428G
c.1283A>G
1 paper
NM_018149.7
p.D428N
c.1282G>A
1 paper
NM_018149.7
p.F580S
c.1739T>C
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