Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.A2delFs

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
2 papers
NM_001146079.2
p.A2delFs
c.6delG
Surrounding Variants
2 papers
NM_001146079.2
p.A2fs
c.4_5fs
1 paper
NM_001146079.2
p.M1insFs
c.2_3insTA
17 papers
NM_001146079.2
p.T4M
c.11C>T
1 paper
NM_001146079.2
p.T4K
c.11C>A
1 paper
NM_001146079.2
p.M1T
c.2T>C
2 papers
NM_001146079.2
p.M1V
c.1A>G
2 papers
NM_001146079.2
p.V6M
c.16G>A
1 paper
NM_001146079.2
p.L12insFs
c.35_36insG
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
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."