Varaico: Literature-Extracted Genetic Variants

Gene:CLDN3
Variant:p.I45delFs

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.I45delFs
c.133delT
Surrounding Variants
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.I40V
c.118A>G
1 paper
NM_001306.4
p.V31A
c.92T>C
1 paper
NM_001306.4
p.R30G
c.88C>G
1 paper
NM_001306.4
p.M28I
c.84G>T
1 paper
NM_001306.4
p.C63*
c.189C>A
1 paper
NM_001306.4
p.K64M
c.191A>T
1 paper
NM_001306.4
p.S68A
c.202T>G
3 papers
NM_001306.4
p.I21T
c.62T>C
1 paper
NM_001306.4
p.L69L
c.207G>A
1 paper
NM_001306.4
p.G19V
c.56G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."