Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16

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
1–12 of 130 variants
38 papers
NM_006580.4
p.L151F
c.453G>C
38 papers
NM_006580.4
p.L151F
c.453G>T
17 papers
NM_006580.4
p.A139V
c.416C>T
13 papers
NM_006580.4
p.T233R
c.698C>G
10 papers
NM_006580.4
p.A209T
c.625G>A
8 papers
NM_006580.4
p.E70V
c.209A>T
8 papers
NM_006580.4
p.L151W
c.452T>G
4 papers
NM_006580.4
p.D56H
c.166G>C
4 papers
NM_006580.4
p.L81F
c.243G>C
4 papers
NM_006580.4
p.L81F
c.243G>T
4 papers
NM_006580.4
p.L203*
c.608T>A
3 papers
NM_006580.4
p.R2insFs
c.4_5insT
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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."