Varaico: Literature-Extracted Genetic Variants

Gene:CLDN23
Variant:p.A124S

CLDN23

33 papers

RefSeq Summary

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solute...

Pfam Domains

PMP22_Claudinaa 3–177UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 23

HGNC Alias Symbol

CLDNL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194284.3
p.A124S
c.370G>T
Surrounding Variants
1 paper
NM_194284.3
p.E108*
c.322G>T
1 paper
NM_194284.3
p.R142delFs
c.424delC
1 paper
NM_194284.3
p.R142fs
c.424_425fs
1 paper
NM_194284.3
p.V102M
c.304G>A
1 paper
NM_194284.3
p.Q155*
c.463C>T
1 paper
NM_194284.3
p.A90T
c.268G>A
1 paper
NM_194284.3
p.V85I
c.253G>A
1 paper
NM_194284.3
p.D67N
c.199G>A
1 paper
NM_194284.3
p.C189C
c.567T>C
1 paper
NM_194284.3
p.R192H
c.575G>A
1 paper
NM_194284.3
p.E55K
c.163G>A
1 paper
NM_194284.3
p.R54C
c.160C>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."