Varaico: Literature-Extracted Genetic Variants

Gene:PMP2
Variant:p.I50T

PMP2

59 papers

RefSeq Summary

The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought...

Pfam Domains

Lipocalinaa 6–132UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

peripheral myelin protein 2

HGNC Alias Symbols

MP2; FABP8; M-FABP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002677.5
p.I50T
c.149T>C
Surrounding Variants
3 papers
NM_002677.5
p.I49_I50del1
c.147_149delATA
8 papers
NM_002677.5
p.T51P
c.151A>C
3 papers
NM_002677.5
p.I50del1
c.148_149delTAT
11 papers
NM_002677.5
p.I52T
c.155T>C
11 papers
NM_002677.5
p.I43N
c.128T>A
1 paper
NM_002677.5
p.I42N
c.125T>A
1 paper
NM_002677.5
p.I42L
c.124A>C
1 paper
NM_002677.5
p.T30_T40del0
c.90_119del30
2 papers
NM_002677.5
p.E62E
c.186A>G
1 paper
NM_002677.5
p.T75P
c.223A>C
1 paper
NM_002677.5
p.A76V
c.227C>T
1 paper
NM_002677.5
p.D77N
c.229G>A
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