Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.W30*

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.W30*
c.90G>A
Surrounding Variants
2 papers
NM_001146079.2
p.W30*
c.89G>A
1 paper
NM_001146079.2
p.R32W
c.94A>T
6 papers
NM_001146079.2
p.P28L
c.83C>T
1 paper
NM_001146079.2
p.G37S
c.109G>A
1 paper
NM_001146079.2
p.I23T
c.68T>C
1 paper
NM_001146079.2
p.L22_I23delFs
c.66_67delTC
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.I40_L41ins6
c.118_122ins18
3 papers
NM_001146079.2
p.G20D
c.59G>A
1 paper
NM_001146079.2
p.G20S
c.58G>A
1 paper
NM_001146079.2
p.S14_M18delFs
c.42_52del11
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