Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.T36S

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
2 papers
NM_000304.4
p.T36S
c.106A>T
Surrounding Variants
1 paper
NM_000304.4
p.T36T
c.108T>C
3 papers
NM_000304.4
p.A35S
c.103G>T
1 paper
NM_000304.4
p.D37Y
c.109G>T
5 papers
NM_000304.4
p.A35T
c.103G>A
12 papers
NM_000304.4
p.D37V
c.110A>T
1 paper
NM_000304.4
p.H34Y
c.100C>T
5 papers
NM_000304.4
p.W39*
c.116G>A
10 papers
NM_000304.4
p.W39C
c.117G>T
10 papers
NM_000304.4
p.W39C
c.117G>C
5 papers
NM_000304.4
p.W39*
c.117G>A
2 papers
NM_000304.4
p.N32S
c.95A>G
2 papers
NM_000304.4
p.N32insFs
c.94_95insG
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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."