Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.M23L

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
3 papers
NM_001161748.2
p.M23L
c.67A>C
Surrounding Variants
1 paper
NM_001161748.2
p.M23L
c.67A>T
2 papers
NM_001161748.2
p.T25A
c.73A>G
2 papers
NM_001161748.2
p.L19L
c.57G>A
7 papers
NM_001161748.2
p.G15V
c.44G>T
1 paper
NM_001161748.2
p.R32Q
c.95G>A
1 paper
NM_001161748.2
p.S34A
c.100T>G
2 papers
NM_001161748.2
p.C11S
c.32G>C
1 paper
NM_001161748.2
p.C11S
c.31T>A
1 paper
NM_001161748.2
p.G35E
c.104G>A
1 paper
NM_001161748.2
p.G41R
c.121G>C
1 paper
NM_001161748.2
p.W43R
c.127T>C
1 paper
NM_001161748.2
p.W43R
c.127T>A
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