Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.N49_F54del6

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.N49_F54del6
c.145_161del18
Surrounding Variants
1 paper
NM_000304.4
p.S55L
c.164C>T
1 paper
NM_000304.4
p.C53_F54insFs
c.159_160ins4
2 papers
NM_000304.4
p.C53ins1
c.158_159insGTG
2 papers
NM_000304.4
p.F54_S55ins6
c.160_164ins18
4 papers
NM_000304.4
p.C53S
c.158G>C
1 paper
NM_000304.4
p.C53R
c.157T>C
4 papers
NM_000304.4
p.C53S
c.157T>A
1 paper
NM_000304.4
p.H52R
c.155A>G
4 papers
NM_000304.4
p.H51R
c.152A>G
1 paper
NM_000304.4
p.E60Q
c.178G>C
3 papers
NM_000304.4
p.E60K
c.178G>A
2 papers
NM_000304.4
p.E60Splc
c.178+1G>C
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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."