Varaico: Literature-Extracted Genetic Variants

Gene:EMP3
Variant:p.S73insFs

EMP3

25 papers

RefSeq Summary

The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved i...

Pfam Domains

PMP22_Claudinaa 1–156UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

epithelial membrane protein 3

HGNC Alias Symbol

YMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001425.3
p.S73insFs
c.217_218dupTC
Surrounding Variants
1 paper
NM_001425.3
p.M70I
c.210G>A
1 paper
NM_001425.3
p.M70I
c.210G>C
1 paper
NM_001425.3
p.M70I
c.210G>T
2 papers
NM_001425.3
p.A65V
c.194C>T
1 paper
NM_001425.3
p.L63_V68delFs
c.187_202del16
1 paper
NM_001425.3
p.G61Splc
c.182-1G>A
1 paper
NM_001425.3
p.L83delFs
c.247delC
1 paper
NM_001425.3
p.G61Splc
c.182-2A>C
1 paper
NM_001425.3
p.Q87*
c.259C>T
1 paper
NM_001425.3
p.R92*
c.274C>T
1 paper
NM_001425.3
p.R92Q
c.275G>A
1 paper
NM_001425.3
p.R93*
c.277C>T
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