Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.G48_N49delFs

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.G48_N49delFs
c.143_147del5
Surrounding Variants
1 paper
NM_001161748.2
p.N49K
c.147C>G
3 papers
NM_001161748.2
p.C51R
c.151T>C
1 paper
NM_001161748.2
p.G48C
c.142G>T
1 paper
NM_001161748.2
p.C46F
c.137G>T
1 paper
NM_001161748.2
p.C46S
c.137G>C
1 paper
NM_001161748.2
p.C46Y
c.137G>A
1 paper
NM_001161748.2
p.C46S
c.136T>A
2 papers
NM_001161748.2
p.Q54*
c.160C>T
1 paper
NM_001161748.2
p.W43*
c.129G>A
1 paper
NM_001161748.2
p.W43*
c.128G>A
1 paper
NM_001161748.2
p.W43R
c.127T>C
1 paper
NM_001161748.2
p.W43R
c.127T>A
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