Varaico: Literature-Extracted Genetic Variants

Gene:EMC8
Variant:p.L44M

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.L44M
c.130C>A
Surrounding Variants
1 paper
NM_006067.5
p.L42L
c.126C>A
1 paper
NM_006067.5
p.E40K
c.118G>A
1 paper
NM_006067.5
p.V55M
c.163G>A
1 paper
NM_006067.5
p.L60fs
c.178_179fs
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