Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.F84L

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.F84L
c.250T>C
Surrounding Variants
2 papers
NM_000304.4
p.F84fs
c.250_251fs
1 paper
NM_000304.4
p.F83insFs
c.248_249insT
1 paper
NM_000304.4
p.F84L
c.252C>G
1 paper
NM_000304.4
p.F84L
c.252C>A
1 paper
NM_000304.4
p.C85S
c.253T>A
1 paper
NM_000304.4
p.C85S
c.254G>C
7 papers
NM_000304.4
p.F84del1
c.250_251delGAA
6 papers
NM_000304.4
p.L82P
c.245T>C
3 papers
NM_000304.4
p.C85*
c.255C>A
6 papers
NM_000304.4
p.Q86*
c.256C>T
2 papers
NM_000304.4
p.Q86K
c.256C>A
1 paper
NM_000304.4
p.F81L
c.243C>G
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