Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.M18V

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.M18V
c.52A>G
Surrounding Variants
1 paper
NM_001146079.2
p.S14_M18delFs
c.42_52del11
1 paper
NM_001146079.2
p.G17S
c.49G>A
1 paper
NM_001146079.2
p.G20S
c.58G>A
3 papers
NM_001146079.2
p.G20D
c.59G>A
5 papers
NM_001146079.2
p.T21T
c.63G>A
1 paper
NM_001146079.2
p.G17_T21delins
c.51_63delinsA
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.I23T
c.68T>C
1 paper
NM_001146079.2
p.L22_I23delFs
c.66_67delTC
1 paper
NM_001146079.2
p.L12insFs
c.35_36insG
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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."