Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.H12Q

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
15 papers
NM_000304.4
p.H12Q
c.36C>A
Surrounding Variants
15 papers
NM_000304.4
p.H12Q
c.36C>G
3 papers
NM_000304.4
p.V13L
c.37G>C
1 paper
NM_000304.4
p.H12L
c.35A>T
12 papers
NM_000304.4
p.H12R
c.35A>G
3 papers
NM_000304.4
p.H12P
c.35A>C
1 paper
NM_000304.4
p.A14T
c.40G>A
1 paper
NM_000304.4
p.L11F
c.31C>T
1 paper
NM_000304.4
p.V10V
c.30C>T
1 paper
NM_000304.4
p.V15insFs
c.43_44insT
2 papers
NM_000304.4
p.V15E
c.44T>A
1 paper
NM_000304.4
p.L16fs
c.46_47fs
2 papers
NM_000304.4
p.L16R
c.47T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."