Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S112R

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.S112R
c.334A>C
Surrounding Variants
2 papers
NM_000304.4
p.S112R
c.336T>G
1 paper
NM_000304.4
p.M111T
c.332T>C
2 papers
NM_000304.4
p.S112R
c.336T>A
1 paper
NM_000304.4
p.A113S
c.337G>T
3 papers
NM_000304.4
p.A113P
c.337G>C
1 paper
NM_000304.4
p.S112_A113ins0
c.335_337dupGTG
2 papers
NM_000304.4
p.A114V
c.341C>T
4 papers
NM_000304.4
p.C109*
c.327C>A
19 papers
NM_000304.4
p.C109R
c.325T>C
4 papers
NM_000304.4
p.A115V
c.344C>T
3 papers
NM_000304.4
p.L108P
c.323T>C
1 paper
NM_000304.4
p.L108insFs
c.322_323insGT
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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."