Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.R159C

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
11 papers
NM_000304.4
p.R159C
c.475C>T
Surrounding Variants
3 papers
NM_000304.4
p.R159H
c.476G>A
1 paper
NM_000304.4
p.E160K
c.478G>A
2 papers
NM_000304.4
p.K158_R159insGTG
c.472_476ins9
27 papers
NM_000304.4
p.R157W
c.469C>T
19 papers
NM_000304.4
p.R157G
c.469C>G
1 paper
NM_000304.4
p.L156F
c.468G>T
1 paper
NM_000304.4
p.L156F
c.468G>C
2 papers
NM_000304.4
p.*161W
c.483A>G
4 papers
NM_000304.4
p.Y153*
c.459T>G
4 papers
NM_000304.4
p.Y153*
c.459T>A
1 paper
NM_000304.4
p.V151F
c.451G>T
4 papers
NM_000304.4
p.G150V
c.449G>T
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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."