Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.F105L

LIM2

114 papers

RefSeq Summary

This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play a...

Pfam Domains

PMP22_Claudinaa 1–157UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

lens intrinsic membrane protein 2

HGNC Alias Symbols

MP19; MP17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001161748.2
p.F105L
c.315T>G
Surrounding Variants
1 paper
NM_001161748.2
p.F106L
c.316T>C
11 papers
NM_001161748.2
p.F105V
c.313T>G
1 paper
NM_001161748.2
p.F105L
c.313T>C
1 paper
NM_001161748.2
p.F106L
c.318T>G
1 paper
NM_001161748.2
p.F106L
c.318T>A
1 paper
NM_001161748.2
p.I103N
c.308T>A
1 paper
NM_001161748.2
p.R97P
c.290G>C
1 paper
NM_001161748.2
p.R97Q
c.290G>A
1 paper
NM_001161748.2
p.S96Y
c.287C>A
2 papers
NM_030657.4
p.H130Y
c.388C>T
NM_001161748.2
p.H88Y
c.262C>T
2 papers
NM_001161748.2
p.H88N
c.262C>A
1 paper
NM_001161748.2
p.C74_I79delFs
c.221_236del16
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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."