Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L78P

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
7 papers
NM_000304.4
p.L78P
c.233T>C
Surrounding Variants
15 papers
NM_000304.4
p.S79P
c.235T>C
2 papers
NM_000304.4
p.S79T
c.235T>A
18 papers
NM_000304.4
p.S79C
c.236C>G
1 paper
NM_000304.4
p.S76S
c.228C>T
2 papers
NM_000304.4
p.S76R
c.228C>G
2 papers
NM_000304.4
p.S76R
c.228C>A
1 paper
NM_000304.4
p.L80M
c.238C>A
4 papers
NM_000304.4
p.S76delFs
c.227delC
4 papers
NM_000304.4
p.L80R
c.239T>G
15 papers
NM_000304.4
p.L80P
c.239T>C
21 papers
NM_000304.4
p.S76I
c.227G>T
2 papers
NM_000304.4
p.L80fs
c.238_239fs
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