Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.D865E

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.D865E
c.2595C>G
Surrounding Variants
1 paper
NM_018149.7
p.D865E
c.2595C>A
1 paper
NM_018149.7
p.K866E
c.2596A>G
1 paper
NM_018149.7
p.M887I
c.2661G>A
1 paper
NM_018149.7
p.M887I
c.2661G>C
1 paper
NM_018149.7
p.M887I
c.2661G>T
1 paper
NM_018149.7
p.Y890C
c.2669A>G
2 papers
NM_018149.7
p.R839*
c.2515C>T
1 paper
NM_018149.7
p.L907F
c.2719C>T
1 paper
NM_018149.7
p.V912I
c.2734G>A
1 paper
NM_018149.7
p.P918L
c.2753C>T
1 paper
NM_018149.7
p.D811N
c.2431G>A
1 paper
NM_018149.7
p.R803fs
c.2407_2408fs
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