Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.F143fs

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.F143fs
c.427_428fs
Surrounding Variants
4 papers
NM_000304.4
p.A142delFs
c.426delG
1 paper
NM_000304.4
p.F143S
c.428T>C
2 papers
NM_000304.4
p.P144T
c.430C>A
2 papers
NM_000304.4
p.P144L
c.431C>T
1 paper
NM_000304.4
p.V141fs
c.421_422fs
6 papers
NM_000304.4
p.L145fs
c.433_434fs
3 papers
NM_000304.4
p.L145insFs
c.434_435insC
1 paper
NM_000304.4
p.L145delFs
c.433delG
2 papers
NM_000304.4
p.W140*
c.420G>A
2 papers
NM_000304.4
p.L145fs
c.433_434fs
2 papers
NM_000304.4
p.W140*
c.419G>A
11 papers
NM_000304.4
p.L145delFs
c.434delA
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