Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S149R

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
10 papers
NM_000304.4
p.S149R
c.447C>A
Surrounding Variants
10 papers
NM_000304.4
p.S149R
c.447C>G
13 papers
NM_000304.4
p.G150C
c.448G>T
1 paper
NM_000304.4
p.S149I
c.446G>T
2 papers
NM_000304.4
p.G150R
c.448G>C
4 papers
NM_000304.4
p.G150V
c.449G>T
3 papers
NM_000304.4
p.G150A
c.449G>C
73 papers
NM_000304.4
p.G150D
c.449G>A
1 paper
NM_000304.4
p.G150delins
c.448_449delinsTT
10 papers
NM_000304.4
p.S149R
c.445A>C
1 paper
NM_000304.4
p.L148delFs
c.443_444delGA
1 paper
NM_000304.4
p.V151F
c.451G>T
13 papers
NM_000304.4
p.L147R
c.440T>G
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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."