Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.R79P

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.R79P
c.236G>C
Surrounding Variants
1 paper
NM_006580.4
p.R79L
c.236G>T
2 papers
NM_006580.4
p.R79*
c.235C>T
1 paper
NM_006580.4
p.R79delFs
c.236delG
1 paper
NM_006580.4
p.T78T
c.234T>A
1 paper
NM_006580.4
p.T78delFs
c.233_234delCT
1 paper
NM_006580.4
p.L81W
c.242T>G
4 papers
NM_006580.4
p.L81F
c.243G>C
4 papers
NM_006580.4
p.L81F
c.243G>T
1 paper
NM_006580.4
p.L75P
c.224T>C
1 paper
NM_006580.4
p.L73Splc
c.218-1G>A
1 paper
NM_006580.4
p.L73Splc
c.218-10G>A
1 paper
NM_006580.4
p.A89T
c.265G>A
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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."