Varaico: Literature-Extracted Genetic Variants

Gene:CLDN6
Variant:p.S203F

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.S203F
c.608C>T
Surrounding Variants
4 papers
NM_021195.5
p.R209Q
c.626G>A
1 paper
NM_021195.5
p.P215S
c.643C>T
1 paper
NM_021195.5
p.Q191delins
c.571_572delinsTC
1 paper
NM_021195.5
p.S190delins
c.568_569delinsTC
1 paper
NM_021195.5
p.G189insFs
c.567dupG
2 papers
NM_021195.5
p.G189delFs
c.567delC
1 paper
NM_021195.5
p.V220I
c.658G>A
1 paper
NM_021195.5
p.G179delFs
c.537delC
1 paper
NM_021195.5
p.Y165C
c.494A>G
1 paper
NM_021195.5
p.A162T
c.484G>A
1 paper
NM_021195.5
p.L160L
c.480G>A
1 paper
NM_021195.5
p.R158W
c.472C>T
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