Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.L12insFs

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.L12insFs
c.35_36insG
Surrounding Variants
1 paper
NM_001146079.2
p.S14fs
c.40_41fs
1 paper
NM_001146079.2
p.S14ins2
c.40_41ins6
1 paper
NM_001146079.2
p.S14insFs
c.40_41ins17
1 paper
NM_001146079.2
p.G17S
c.49G>A
1 paper
NM_001146079.2
p.M18V
c.52A>G
1 paper
NM_001146079.2
p.S14_M18delFs
c.42_52del11
2 papers
NM_001146079.2
p.V6M
c.16G>A
1 paper
NM_001146079.2
p.G20S
c.58G>A
3 papers
NM_001146079.2
p.G20D
c.59G>A
17 papers
NM_001146079.2
p.T4M
c.11C>T
1 paper
NM_001146079.2
p.T4K
c.11C>A
5 papers
NM_001146079.2
p.T21T
c.63G>A
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."