Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.S217A

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
3 papers
NM_006580.4
p.S217A
c.649T>G
Surrounding Variants
1 paper
NM_006580.4
p.S213Y
c.638C>A
1 paper
NM_006580.4
p.S213F
c.638C>T
1 paper
NM_006580.4
p.P221L
c.662C>T
1 paper
NM_006580.4
p.T223R
c.668C>G
10 papers
NM_006580.4
p.A209T
c.625G>A
1 paper
NM_006580.4
p.A209insFs
c.625_626insG
2 papers
NM_006580.4
p.Y207*
c.621T>A
2 papers
NM_006580.4
p.Y207*
c.621T>G
1 paper
NM_006580.4
p.A226A
c.678C>G
4 papers
NM_006580.4
p.L203*
c.608T>A
1 paper
NM_006580.4
p.A230A
c.690T>G
1 paper
NM_006580.4
p.T233_R234del2
c.697_701del6
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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."