Varaico: Literature-Extracted Genetic Variants

Gene:EMP2
Variant:p.Q62*

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
3 papers
NM_001424.6
p.Q62*
c.184C>T
Surrounding Variants
1 paper
NM_001424.6
p.S59_L61delFs
c.177_181del5
1 paper
NM_001424.6
p.L61fs
c.181_182fs
1 paper
NM_001424.6
p.T60fs
c.178_179fs
1 paper
NM_001424.6
p.G92R
c.274G>C
1 paper
NM_001424.6
p.G92R
c.274G>A
1 paper
NM_001424.6
p.I111I
c.333T>A
1 paper
NM_001424.6
p.A113A
c.339C>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
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