Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S131C

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
6 papers
NM_000304.4
p.S131C
c.392C>G
Surrounding Variants
1 paper
NM_000304.4
p.W124_D129delFs
c.372_387del16
2 papers
NM_000304.4
p.G133S
c.397G>A
1 paper
NM_000304.4
p.S128*
c.383C>A
1 paper
NM_000304.4
p.A135insFs
c.403_404insT
1 paper
NM_000304.4
p.A135_Y136insC
c.403_407ins3
6 papers
NM_000304.4
p.A135T
c.403G>A
1 paper
NM_000304.4
p.A135V
c.404C>T
1 paper
NM_000304.4
p.N127S
c.380A>G
1 paper
NM_000304.4
p.N127fs
c.379_380fs
1 paper
NM_000304.4
p.N127Y
c.379A>T
2 papers
NM_000304.4
p.Y136S
c.407A>C
8 papers
NM_000304.4
p.I137V
c.409A>G
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