Varaico: Literature-Extracted Genetic Variants

Gene:EMC8
Variant:p.P200S

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.P200S
c.598C>T
Surrounding Variants
1 paper
NM_006067.5
p.N199N
c.597C>T
1 paper
NM_006067.5
p.V206ins1
c.616_617insCTG
1 paper
NM_006067.5
p.L209F
c.627G>T
1 paper
NM_006067.5
p.L209F
c.627G>C
1 paper
NM_006067.5
p.R178_E181delins
c.533_542delinsC
1 paper
NM_006067.5
p.D159N
c.475G>A
1 paper
NM_006067.5
p.N149Y
c.445A>T
1 paper
NM_006067.5
p.E145G
c.434A>G
1 paper
NM_006067.5
p.T133M
c.398C>T
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.E117Q
c.349G>C
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