Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.R803delFs

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.R803delFs
c.2407delA
Surrounding Variants
1 paper
NM_018149.7
p.R803fs
c.2407_2408fs
1 paper
NM_018149.7
p.Y794C
c.2381A>G
1 paper
NM_018149.7
p.D811N
c.2431G>A
1 paper
NM_018149.7
p.I789V
c.2365A>G
1 paper
NM_018149.7
p.S776_Y777insFs
c.2328_2329insTA
1 paper
NM_018149.7
p.S776fs
c.2326_2327fs
2 papers
NM_018149.7
p.R839*
c.2515C>T
1 paper
NM_018149.7
p.G758S
c.2272G>A
1 paper
NM_018149.7
p.H752L
c.2255A>T
1 paper
NM_018149.7
p.D865E
c.2595C>A
1 paper
NM_018149.7
p.D865E
c.2595C>G
1 paper
NM_018149.7
p.K866E
c.2596A>G
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