Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.G94delFs

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
13 papers
NM_000304.4
p.G94delFs
c.281delC
Surrounding Variants
9 papers
NM_000304.4
p.G94insFs
c.281_282insG
2 papers
NM_000304.4
p.G94fs
c.280_281fs
1 paper
NM_000304.4
p.G94A
c.281G>C
5 papers
NM_000304.4
p.G94D
c.281G>A
1 paper
NM_000304.4
p.G94Fs
c.280_281delinsTFs
6 papers
NM_000304.4
p.G94fs
c.280_281fs
1 paper
NM_000304.4
p.G93G
c.279G>A
1 paper
NM_000304.4
p.G93A
c.278G>C
1 paper
NM_000304.4
p.G93E
c.278G>A
1 paper
NM_000304.4
p.G93W
c.277G>T
12 papers
NM_000304.4
p.G93R
c.277G>C
12 papers
NM_000304.4
p.G93R
c.277G>A
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