Varaico: Literature-Extracted Genetic Variants

Gene:EMP2
Variant:p.A113A

EMP2

50 papers

RefSeq Summary

This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signal...

Pfam Domains

PMP22_Claudinaa 1–160UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

epithelial membrane protein 2

HGNC Alias Symbol

XMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001424.6
p.A113A
c.339C>A
Surrounding Variants
1 paper
NM_001424.6
p.I111I
c.333T>A
1 paper
NM_001424.6
p.H124Y
c.370C>T
1 paper
NM_001424.6
p.D125A
c.374A>C
1 paper
NM_001424.6
p.K129T
c.386A>C
1 paper
NM_001424.6
p.V133M
c.397G>A
1 paper
NM_001424.6
p.G140S
c.418G>A
1 paper
NM_001424.6
p.S142S
c.426C>T
1 paper
NM_001424.6
p.Y143F
c.428A>T
1 paper
NM_001424.6
p.A146A
c.438G>C
1 paper
NM_001424.6
p.V148M
c.442G>A
1 paper
NM_001424.6
p.F150F
c.450C>T
1 paper
NM_001424.6
p.C152F
c.455G>T
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