Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14

CLDN14

141 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 4–181UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 14

HGNC Previous Symbol

DFNB29

Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
28 papers
NM_001146079.2
p.V85D
c.254T>A
17 papers
NM_001146079.2
p.T4M
c.11C>T
16 papers
NM_001146079.2
p.R81H
c.242G>A
13 papers
NM_001146079.2
p.A163V
c.488C>T
12 papers
NM_001146079.2
p.G101R
c.301G>A
11 papers
NM_001146079.2
p.G101R
c.301G>C
11 papers
NM_001146079.2
p.G232R
c.694G>A
10 papers
NM_001146079.2
p.M133delFs
c.398delA
9 papers
NM_001146079.2
p.G232R
c.694G>C
8 papers
NM_001146079.2
p.W56*
c.167G>A
8 papers
NM_001146079.2
p.R81R
c.243C>T
8 papers
NM_001146079.2
p.T229T
c.687G>A
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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."