Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.R68Q

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.R68Q
c.203G>A
Surrounding Variants
2 papers
NM_001146079.2
p.R68*
c.202C>T
1 paper
NM_001146079.2
p.L70M
c.208C>A
1 paper
NM_001146079.2
p.S69delFs
c.207delG
1 paper
NM_001146079.2
p.T59_C64delFs
c.176_191del16
1 paper
NM_001146079.2
p.A72V
c.215C>T
1 paper
NM_001146079.2
p.Y62C
c.185A>G
2 papers
NM_001146079.2
p.G60D
c.179G>A
1 paper
NM_001146079.2
p.H57Y
c.169C>T
5 papers
NM_001146079.2
p.W56*
c.168G>A
1 paper
NM_001146079.2
p.V55_W56delFs
c.165_166delAC
8 papers
NM_001146079.2
p.W56*
c.167G>A
2 papers
NM_001146079.2
p.R81C
c.241C>T
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