Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.V120fs

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
Selected Variant
1 paper
NM_021101.5
p.V120fs
c.358_359fs
Surrounding Variants
15 papers
NM_021101.5
p.V120delFs
c.358delC
3 papers
NM_021101.5
p.V120fs
c.358_359fs
5 papers
NM_021101.5
p.G123G
c.369T>C
9 papers
NM_021101.5
p.A124T
c.370G>A
1 paper
NM_021101.5
p.A124A
c.372G>A
1 paper
NM_021101.5
p.Q114*
c.340C>T
2 papers
NM_021101.5
p.M105V
c.313A>G
1 paper
NM_021101.5
p.C104R
c.310T>C
1 paper
NM_021101.5
p.I93T
c.278T>C
1 paper
NM_021101.5
p.V92L
c.274G>T
1 paper
NM_021101.5
p.V85G
c.254T>G
4 papers
NM_021101.5
p.R81H
c.242G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."