Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.T123fs

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.T123fs
c.367_368fs
Surrounding Variants
2 papers
NM_001161748.2
p.T123T
c.369C>G
2 papers
NM_001161748.2
p.T123T
c.369C>A
1 paper
NM_001161748.2
p.V122F
c.364G>T
1 paper
NM_001161748.2
p.T120S
c.358A>T
1 paper
NM_001161748.2
p.L127P
c.380T>C
1 paper
NM_001161748.2
p.L127_G128ins1
c.381_382insATC
2 papers
NM_001161748.2
p.R129C
c.385C>T
5 papers
NM_001161748.2
p.R130C
c.388C>T
2 papers
NM_001161748.2
p.G132V
c.395G>T
1 paper
NM_001161748.2
p.W134_R135insFs
c.402_403insC
1 paper
NM_001161748.2
p.R135H
c.404G>A
3 papers
NM_001161748.2
p.S137S
c.411C>A
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