Varaico: Literature-Extracted Genetic Variants

Gene:EMC2
Variant:p.A72T

EMC2

21 papers

Pfam Domains

TPR_EMC2aa 56–220UCSCEMC2 TPR-like repeat domain

Gene Aliases

HGNC Name

ER membrane protein complex subunit 2

HGNC Previous Symbols

KIAA0103; TTC35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014673.5
p.A72T
c.214G>A
Surrounding Variants
1 paper
NM_014673.5
p.R68Q
c.203G>A
1 paper
NM_014673.5
p.E24D
c.72A>T
1 paper
NM_014673.5
p.K90E
c.268A>G
1 paper
NM_014673.5
p.M95K
c.284T>A
1 paper
NM_014673.5
p.M100L
c.298A>C
1 paper
NM_014673.5
p.M100L
c.298A>T
1 paper
NM_014673.5
p.E14Splc
c.40+2563G>A
1 paper
NM_014673.5
p.I107L
c.319A>T
1 paper
NM_014673.5
p.Q115P
c.344A>C
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