Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1

CLDN1

111 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 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 1

HGNC Alias Symbols

SEMP1; ILVASC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
15 papers
NM_021101.5
p.V120delFs
c.358delC
13 papers
NM_021101.5
p.Q61*
c.181C>T
11 papers
NM_021101.5
p.F67delFs
c.200_201delAA
9 papers
NM_021101.5
p.A124T
c.370G>A
9 papers
NM_021101.5
p.Y159*
c.477C>G
9 papers
NM_021101.5
p.Y159*
c.477C>A
7 papers
NM_021101.5
p.T42S
c.124A>T
5 papers
NM_021101.5
p.G123G
c.369T>C
4 papers
NM_021101.5
p.A36A
c.108C>T
4 papers
NM_021101.5
p.E48K
c.142G>A
4 papers
NM_021101.5
p.R81H
c.242G>A
3 papers
NM_021101.5
p.G5R
c.13G>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."