Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.I93R

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.I93R
c.278T>G
Surrounding Variants
6 papers
NM_001146079.2
p.A94V
c.281C>T
1 paper
NM_001146079.2
p.C95R
c.283T>C
1 paper
NM_001146079.2
p.S91S
c.273G>A
1 paper
NM_001146079.2
p.A96T
c.286G>A
2 papers
NM_001146079.2
p.L90P
c.269T>C
1 paper
NM_001146079.2
p.L90V
c.268C>G
3 papers
NM_001146079.2
p.C97*
c.291C>A
1 paper
NM_001146079.2
p.A98T
c.292G>A
1 paper
NM_001146079.2
p.V99I
c.295G>A
1 paper
NM_001146079.2
p.V99V
c.297C>G
1 paper
NM_001146079.2
p.I100T
c.299T>C
2 papers
NM_001146079.2
p.I100I
c.300C>T
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