Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.I29T

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.I29T
c.86T>C
Surrounding Variants
2 papers
NM_000304.4
p.W28C
c.84G>T
2 papers
NM_000304.4
p.W28C
c.84G>C
30 papers
NM_000304.4
p.V30M
c.88G>A
4 papers
NM_000304.4
p.W28*
c.84G>A
4 papers
NM_000304.4
p.W28*
c.83G>A
11 papers
NM_000304.4
p.W28R
c.82T>C
11 papers
NM_000304.4
p.W28R
c.82T>A
1 paper
NM_000304.4
p.V30V
c.90G>A
2 papers
NM_000304.4
p.N32insFs
c.94_95insG
3 papers
NM_000304.4
p.S26_Q27Splc
c.79-2A>G
2 papers
NM_000304.4
p.N32S
c.95A>G
2 papers
NM_000304.4
p.S26_Q27Splc
c.79-2A>C
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