Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L90H

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
1 paper
NM_000304.4
p.L90H
c.269T>A
Surrounding Variants
2 papers
NM_000304.4
p.L90V
c.268C>G
2 papers
NM_000304.4
p.L90L
c.270C>A
1 paper
NM_000304.4
p.T89I
c.266C>T
2 papers
NM_000304.4
p.T89N
c.266C>A
2 papers
NM_000304.4
p.K92E
c.274A>G
1 paper
NM_000304.4
p.K92R
c.275A>G
1 paper
NM_000304.4
p.F88L
c.262T>C
1 paper
NM_000304.4
p.K92fs
c.274_275fs
2 papers
NM_000304.4
p.K92K
c.276G>A
1 paper
NM_000304.4
p.G93W
c.277G>T
12 papers
NM_000304.4
p.G93R
c.277G>C
12 papers
NM_000304.4
p.G93R
c.277G>A
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