Varaico: Literature-Extracted Genetic Variants

Gene:CLDN6
Variant:p.D76D

CLDN6

26 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 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021195.5
p.D76D
c.228C>T
Surrounding Variants
1 paper
NM_021195.5
p.G60D
c.179G>A
1 paper
NM_021195.5
p.L95L
c.283T>C
1 paper
NM_021195.5
p.T33T
c.99C>T
1 paper
NM_021195.5
p.T120N
c.359C>A
1 paper
NM_021195.5
p.V32M
c.94G>A
3 papers
NM_021195.5
p.V130L
c.388G>C
2 papers
NM_021195.5
p.I143V
c.427A>G
1 paper
NM_021195.5
p.R145W
c.433C>T
1 paper
NM_021195.5
p.G5R
c.13G>C
1 paper
NM_021195.5
p.G5R
c.13G>A
1 paper
NM_021195.5
p.A4V
c.11C>T
1 paper
NM_021195.5
p.R158W
c.472C>T
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