Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.A120T

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.A120T
c.358G>A
Surrounding Variants
1 paper
NM_006580.4
p.A120insFs
c.359dupC
2 papers
NM_006580.4
p.G121R
c.361G>A
2 papers
NM_006580.4
p.G121R
c.361G>C
1 paper
NM_006580.4
p.G121A
c.362G>C
1 paper
NM_006580.4
p.C117Y
c.350G>A
2 papers
NM_006580.4
p.L125P
c.374T>C
1 paper
NM_006580.4
p.A127T
c.379G>A
2 papers
NM_006580.4
p.G128A
c.383G>C
1 paper
NM_006580.4
p.P110A
c.328C>G
1 paper
NM_006580.4
p.E109Q
c.325G>C
1 paper
NM_006580.4
p.L100L
c.300T>G
1 paper
NM_006580.4
p.G99R
c.295G>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."