Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.C186S

CLDN16

132 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 3–183UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 16

HGNC Alias Symbols

PCLN1; HOMG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006580.4
p.C186S
c.557G>C
Surrounding Variants
1 paper
NM_006580.4
p.T184fs
c.550_551fs
1 paper
NM_006580.4
p.T184delFs
c.550delA
1 paper
NM_006580.4
p.L189P
c.566T>C
1 paper
NM_006580.4
p.V182I
c.544G>A
2 papers
NM_006580.4
p.V182_L183insFs
c.545_548dup4
1 paper
NM_006580.4
p.A181delFs
c.541delG
1 paper
NM_006580.4
p.D192Splc
c.574+2T>C
1 paper
NM_006580.4
p.L178*
c.533T>A
1 paper
NM_006580.4
p.L178S
c.533T>C
1 paper
NM_006580.4
p.C176*
c.528C>A
1 paper
NM_006580.4
p.G172R
c.514G>A
1 paper
NM_006580.4
p.G172R
c.514G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."