Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.G110S

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
Selected Variant
1 paper
NM_001146079.2
p.G110S
c.328G>A
Surrounding Variants
1 paper
NM_001146079.2
p.A113P
c.337G>C
1 paper
NM_001146079.2
p.A113T
c.337G>A
1 paper
NM_001146079.2
p.R106C
c.316C>T
1 paper
NM_001146079.2
p.T105M
c.314C>T
11 papers
NM_001146079.2
p.G101R
c.301G>C
12 papers
NM_001146079.2
p.G101R
c.301G>A
1 paper
NM_001146079.2
p.I100delFs
c.299_300delGA
2 papers
NM_001146079.2
p.I100I
c.300C>T
1 paper
NM_001146079.2
p.I100T
c.299T>C
1 paper
NM_001146079.2
p.V99V
c.297C>G
1 paper
NM_001146079.2
p.V99I
c.295G>A
1 paper
NM_001146079.2
p.G121A
c.362G>C
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."