Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.T44S

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.T44S
c.131C>G
Surrounding Variants
1 paper
NM_000304.4
p.T44delFs
c.130_131delGT
2 papers
NM_000304.4
p.T44S
c.130A>T
2 papers
NM_000304.4
p.T44A
c.130A>G
1 paper
NM_000304.4
p.S45_S46insFs
c.135_136insC
1 paper
NM_000304.4
p.S43G
c.127A>G
1 paper
NM_000304.4
p.C42S
c.125G>C
7 papers
NM_000304.4
p.C42R
c.124T>C
1 paper
NM_000304.4
p.C42S
c.124T>A
1 paper
NM_000304.4
p.N41Y
c.121A>T
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
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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."