Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.R81R

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.R81R
c.243C>A
Surrounding Variants
8 papers
NM_001146079.2
p.R81R
c.243C>T
16 papers
NM_001146079.2
p.R81H
c.242G>A
2 papers
NM_001146079.2
p.R81C
c.241C>T
28 papers
NM_001146079.2
p.V85D
c.254T>A
1 paper
NM_001146079.2
p.I86V
c.256A>G
1 paper
NM_001146079.2
p.L90V
c.268C>G
2 papers
NM_001146079.2
p.L90P
c.269T>C
1 paper
NM_001146079.2
p.A72V
c.215C>T
1 paper
NM_001146079.2
p.S91S
c.273G>A
1 paper
NM_001146079.2
p.S69delFs
c.207delG
2 papers
NM_001146079.2
p.I93R
c.278T>G
1 paper
NM_001146079.2
p.L70M
c.208C>A
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