Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S72T

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.S72T
c.214T>A
Surrounding Variants
5 papers
NM_000304.4
p.S72P
c.214T>C
66 papers
NM_000304.4
p.S72L
c.215C>T
17 papers
NM_000304.4
p.S72W
c.215C>G
10 papers
NM_000304.4
p.L71P
c.212T>C
3 papers
NM_000304.4
p.M69R
c.206T>G
19 papers
NM_000304.4
p.M69K
c.206T>A
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
1 paper
NM_000304.4
p.F75S
c.224T>C
1 paper
NM_000304.4
p.F75F
c.225C>T
2 papers
NM_000304.4
p.S76fs
c.226_227fs
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