Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.D35delFs

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.D35delFs
c.103delG
Surrounding Variants
1 paper
NM_006580.4
p.D35E
c.105C>G
1 paper
NM_006580.4
p.E38E
c.114G>A
1 paper
NM_006580.4
p.E38_V39Splc
c.114+13C>G
2 papers
NM_006580.4
p.W25C
c.75G>C
1 paper
NM_006580.4
p.F12Y
c.35T>A
1 paper
NM_006580.4
p.F11insFs
c.33dupC
3 papers
NM_006580.4
p.R2insFs
c.4_5insT
1 paper
NM_006580.4
p.M1I
c.3G>A
1 paper
NM_006580.4
p.R2delFs
c.4delA
2 papers
NM_006580.4
p.M1T
c.2T>C
1 paper
NM_006580.4
p.M1R
c.2T>G
1 paper
NM_006580.4
p.M1fs
c.1_2fs
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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."