Varaico: Literature-Extracted Genetic Variants

Gene:PMP22

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
1–12 of 308 variants
122 papers
NM_000304.4
p.L16P
c.47T>C
102 papers
NM_000304.4
p.T118M
c.353C>T
73 papers
NM_000304.4
p.G150D
c.449G>A
66 papers
NM_000304.4
p.S72L
c.215C>T
30 papers
NM_000304.4
p.V30M
c.88G>A
27 papers
NM_000304.4
p.R157W
c.469C>T
23 papers
NM_000304.4
p.A67P
c.199G>C
21 papers
NM_000304.4
p.S76I
c.227G>T
19 papers
NM_000304.4
p.A67T
c.199G>A
19 papers
NM_000304.4
p.M69K
c.206T>A
19 papers
NM_000304.4
p.C109R
c.325T>C
19 papers
NM_000304.4
p.R157G
c.469C>G
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