Varaico: Literature-Extracted Genetic Variants

Gene:EMC8
Variant:p.H85Q

EMC8

22 papers

Pfam Domains

UPF0172aa 3–202UCSCUncharacterised protein family (UPF0172)

Gene Aliases

HGNC Name

ER membrane protein complex subunit 8

HGNC Previous Symbols

NOC4; C16orf2; COX4NB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006067.5
p.H85Q
c.255T>A
Surrounding Variants
1 paper
NM_006067.5
p.H85Q
c.255T>G
1 paper
NM_006067.5
p.C82Y
c.245G>A
1 paper
NM_006067.5
p.K100N
c.300G>T
1 paper
NM_006067.5
p.K100N
c.300G>C
1 paper
NM_006067.5
p.E117Q
c.349G>C
1 paper
NM_006067.5
p.E117D
c.351G>T
1 paper
NM_006067.5
p.E117D
c.351G>C
1 paper
NM_006067.5
p.T133M
c.398C>T
1 paper
NM_006067.5
p.E145G
c.434A>G
1 paper
NM_006067.5
p.N149Y
c.445A>T
1 paper
NM_006067.5
p.D159N
c.475G>A
1 paper
NM_006067.5
p.R178_E181delins
c.533_542delinsC
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