Varaico: Literature-Extracted Genetic Variants

Gene:PLP2
Variant:p.I93T

PLP2

27 papers

RefSeq Summary

This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymo...

Pfam Domains

MARVELaa 19–131UCSCMembrane-associating domain

Gene Aliases

HGNC Name

proteolipid protein 2

HGNC Alias Symbols

A4; A4-LSB; MGC126187

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002668.3
p.I93T
c.278T>C
Surrounding Variants
1 paper
NM_002668.3
p.A91V
c.272C>T
1 paper
NM_002668.3
p.T88S
c.263C>G
1 paper
NM_002668.3
p.T88S
c.262A>T
2 papers
NM_002668.3
p.D84N
c.250G>A
1 paper
NM_002668.3
p.K111R
c.332A>G
1 paper
NM_002668.3
p.P81P
c.243C>A
1 paper
NM_002668.3
p.T46A
c.136A>G
1 paper
NM_002668.3
p.A121G
c.362C>G
1 paper
NM_002668.3
p.G126R
c.376G>C
1 paper
NM_002668.3
p.D128G
c.383A>G
1 paper
NM_002668.3
p.T145N
c.434C>A
1 paper
NM_002668.3
p.I26I
c.78C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."