Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.T118del1

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.T118del1
c.352_353delCGT
Surrounding Variants
3 papers
NM_000304.4
p.A115_T118del0
c.343_354del12
102 papers
NM_000304.4
p.T118M
c.353C>T
5 papers
NM_000304.4
p.R120W
c.358A>T
1 paper
NM_000304.4
p.T118S
c.352A>T
1 paper
NM_000304.4
p.R120K
c.359G>A
1 paper
NM_000304.4
p.R120R
c.360G>A
1 paper
NM_000304.4
p.Y117insFs
c.349_350insT
1 paper
NM_000304.4
p.P122fs
c.364_365fs
1 paper
NM_000304.4
p.P122A
c.364C>G
1 paper
NM_000304.4
p.I116insFs
c.346_347insCC
1 paper
NM_000304.4
p.P122fs
c.364_365fs
3 papers
NM_000304.4
p.P122delFs
c.364_365delGG
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