Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.G172R

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.G172R
c.514G>A
Surrounding Variants
1 paper
NM_006580.4
p.G172R
c.514G>C
1 paper
NM_006580.4
p.A171T
c.511G>A
1 paper
NM_006580.4
p.A171insFs
c.512dupC
1 paper
NM_006580.4
p.G169R
c.505G>A
1 paper
NM_006580.4
p.G169R
c.505G>C
1 paper
NM_006580.4
p.C176*
c.528C>A
1 paper
NM_006580.4
p.C166del1
c.496_497delTGT
1 paper
NM_006580.4
p.L178*
c.533T>A
1 paper
NM_006580.4
p.L178S
c.533T>C
1 paper
NM_006580.4
p.S165F
c.494C>T
1 paper
NM_006580.4
p.S165P
c.493T>C
1 paper
NM_006580.4
p.A181delFs
c.541delG
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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."