Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.P122A

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.P122A
c.364C>G
Surrounding Variants
1 paper
NM_000304.4
p.P122fs
c.364_365fs
1 paper
NM_000304.4
p.P122fs
c.364_365fs
3 papers
NM_000304.4
p.P122delFs
c.364_365delGG
3 papers
NM_000304.4
p.E123*
c.367G>T
2 papers
NM_000304.4
p.E123K
c.367G>A
1 paper
NM_000304.4
p.R120R
c.360G>A
1 paper
NM_000304.4
p.E123G
c.368A>G
1 paper
NM_000304.4
p.R120K
c.359G>A
2 papers
NM_000304.4
p.W124fs
c.370_371fs
5 papers
NM_000304.4
p.R120W
c.358A>T
4 papers
NM_000304.4
p.W124*
c.371G>A
2 papers
NM_000304.4
p.W124delFs
c.370delA
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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."