Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.V65V

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.V65V
c.195C>T
Surrounding Variants
12 papers
NM_000304.4
p.V65F
c.193G>T
23 papers
NM_000304.4
p.A67P
c.199G>C
19 papers
NM_000304.4
p.A67T
c.199G>A
1 paper
NM_000304.4
p.S64insFs
c.190dupT
2 papers
NM_000304.4
p.A67D
c.200C>A
1 paper
NM_000304.4
p.Q63Q
c.189G>A
3 papers
NM_000304.4
p.Q63R
c.188A>G
1 paper
NM_000304.4
p.A67delFs
c.201delG
2 papers
NM_000304.4
p.L62R
c.185T>G
1 paper
NM_000304.4
p.M69L
c.205A>T
1 paper
NM_000304.4
p.M69L
c.205A>C
1 paper
NM_000304.4
p.T68insFs
c.203dupC
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