Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.N127Y

PMP22

578 papers

RefSeq Summary

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Va...

Pfam Domains

PMP22_Claudinaa 1–153UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

peripheral myelin protein 22

HGNC Previous Symbol

CMT1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000304.4
p.N127Y
c.379A>T
Surrounding Variants
1 paper
NM_000304.4
p.N127fs
c.379_380fs
1 paper
NM_000304.4
p.N127S
c.380A>G
1 paper
NM_000304.4
p.S128*
c.383C>A
2 papers
NM_000304.4
p.H125Y
c.373C>T
6 papers
NM_000304.4
p.W124*
c.372G>A
4 papers
NM_000304.4
p.W124*
c.371G>A
2 papers
NM_000304.4
p.W124delFs
c.370delA
1 paper
NM_000304.4
p.W124_D129delFs
c.372_387del16
2 papers
NM_000304.4
p.W124fs
c.370_371fs
1 paper
NM_000304.4
p.E123G
c.368A>G
3 papers
NM_000304.4
p.E123*
c.367G>T
2 papers
NM_000304.4
p.E123K
c.367G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."