Varaico: Literature-Extracted Genetic Variants

Gene:CLDN3
Variant:p.L69L

CLDN3

55 papers

RefSeq Summary

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and wat...

Pfam Domains

PMP22_Claudinaa 3–180UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 3

HGNC Previous Symbols

C7orf1; CPETR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001306.4
p.L69L
c.207G>A
Surrounding Variants
1 paper
NM_001306.4
p.S68A
c.202T>G
1 paper
NM_001306.4
p.L72L
c.216G>T
1 paper
NM_001306.4
p.K64M
c.191A>T
1 paper
NM_001306.4
p.C63*
c.189C>A
1 paper
NM_001306.4
p.R80G
c.238C>G
1 paper
NM_001306.4
p.A86S
c.256G>T
1 paper
NM_001306.4
p.I45delFs
c.133delT
1 paper
NM_001306.4
p.N44T
c.131A>C
2 papers
NM_001306.4
p.Q43L
c.128A>T
1 paper
NM_001306.4
p.A97V
c.290C>T
1 paper
NM_001306.4
p.I40V
c.118A>G
1 paper
NM_001306.4
p.T104T
c.312C>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."