Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L2L

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.L2L
c.6C>G
Surrounding Variants
1 paper
NM_000304.4
p.L2insFs
c.4dupC
1 paper
NM_000304.4
p.L3P
c.8T>C
1 paper
NM_000304.4
p.M1insFs
c.3dupG
3 papers
NM_000304.4
p.M1I
c.3G>T
3 papers
NM_000304.4
p.M1insFs
c.2dupT
1 paper
NM_000304.4
p.M1I
c.3G>C
1 paper
NM_000304.4
p.M1I
c.3G>A
1 paper
NM_000304.4
p.M1R
c.2T>G
1 paper
NM_000304.4
p.M1K
c.2T>A
2 papers
NM_000304.4
p.L4fs
c.10_11fs
5 papers
NM_000304.4
p.L4delFs
c.11delA
1 paper
NM_000304.4
p.L4insFs
c.12dupG
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