Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.I22L

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.I22L
c.64A>C
Surrounding Variants
1 paper
NM_021101.5
p.S24N
c.71G>A
1 paper
NM_021101.5
p.A14V
c.41C>T
2 papers
NM_021101.5
p.W30*
c.89G>A
2 papers
NM_021101.5
p.W30*
c.90G>A
1 paper
NM_021101.5
p.I12insFs
c.36dupT
1 paper
NM_021101.5
p.R31T
c.92G>C
1 paper
NM_021101.5
p.I32M
c.96T>G
4 papers
NM_021101.5
p.A36A
c.108C>T
3 papers
NM_021101.5
p.G5R
c.13G>C
7 papers
NM_021101.5
p.T42S
c.124A>T
1 paper
NM_021101.5
p.M1T
c.2T>C
1 paper
NM_021101.5
p.M46L
c.136A>T
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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."