Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L18P

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.L18P
c.53T>C
Surrounding Variants
2 papers
NM_000304.4
p.L18R
c.53T>G
2 papers
NM_000304.4
p.L18_L19ins2
c.54_55ins6
1 paper
NM_000304.4
p.V17_L18del0
c.49_54del6
4 papers
NM_000304.4
p.L19P
c.56T>C
1 paper
NM_000304.4
p.V17M
c.49G>A
2 papers
NM_000304.4
p.F20L
c.58T>C
1 paper
NM_000304.4
p.L16_V17insFs
c.48_49insC
2 papers
NM_000304.4
p.L16R
c.47T>G
1 paper
NM_000304.4
p.F20C
c.59T>G
122 papers
NM_000304.4
p.L16P
c.47T>C
1 paper
NM_000304.4
p.L16fs
c.46_47fs
2 papers
NM_000304.4
p.F20L
c.60C>G
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