Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.G232R

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
9 papers
NM_001146079.2
p.G232R
c.694G>C
Surrounding Variants
11 papers
NM_001146079.2
p.G232R
c.694G>A
8 papers
NM_001146079.2
p.T229T
c.687G>A
1 paper
NM_001146079.2
p.V239E
c.716T>A
1 paper
NM_001146079.2
p.S224L
c.671C>T
1 paper
NM_001146079.2
p.A222fs
c.664_665fs
1 paper
NM_001146079.2
p.A222delFs
c.664delC
1 paper
NM_001146079.2
p.Q212R
c.635A>G
1 paper
NM_001146079.2
p.Y211Y
c.633C>T
1 paper
NM_001146079.2
p.T207T
c.621C>T
1 paper
NM_001146079.2
p.T202M
c.605C>T
1 paper
NM_001146079.2
p.R192R
c.576G>A
1 paper
NM_001146079.2
p.I176_Y191del16
c.526_572del48
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