Varaico: Literature-Extracted Genetic Variants

Gene:LIM2

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
1–12 of 71 variants
11 papers
NM_001161748.2
p.F105V
c.313T>G
10 papers
NM_001161748.2
p.G154E
c.461G>A
7 papers
NM_001161748.2
p.G15V
c.44G>T
5 papers
NM_001161748.2
p.G78D
c.233G>A
5 papers
NM_001161748.2
p.R130C
c.388C>T
3 papers
NM_001161748.2
p.M23L
c.67A>C
3 papers
NM_001161748.2
p.C51R
c.151T>C
3 papers
NM_001161748.2
p.S137S
c.411C>A
2 papers
NM_001161748.2
p.C11S
c.32G>C
2 papers
NM_001161748.2
p.L19L
c.57G>A
2 papers
NM_001161748.2
p.T25A
c.73A>G
2 papers
NM_001161748.2
p.Q54*
c.160C>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."