Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.A163V

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
13 papers
NM_001146079.2
p.A163V
c.488C>T
Surrounding Variants
1 paper
NM_001146079.2
p.L164P
c.491T>C
1 paper
NM_001146079.2
p.Y165_L166del0
c.493_498del6
1 paper
NM_001146079.2
p.E159K
c.475G>A
1 paper
NM_001146079.2
p.M156T
c.467T>C
1 paper
NM_001146079.2
p.S170F
c.509C>T
1 paper
NM_001146079.2
p.S171S
c.513G>A
1 paper
NM_001146079.2
p.S154S
c.462C>T
2 papers
NM_001146079.2
p.S174L
c.521C>T
2 papers
NM_001146079.2
p.L152V
c.454C>G
1 paper
NM_001146079.2
p.L151L
c.453G>T
1 paper
NM_001146079.2
p.P150L
c.449C>T
1 paper
NM_001146079.2
p.V143M
c.427G>A
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