Varaico: Literature-Extracted Genetic Variants

Gene:CLDN23
Variant:p.R251R

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.R251R
c.753G>A
Surrounding Variants
1 paper
NM_194284.3
p.M249L
c.745A>C
1 paper
NM_194284.3
p.M249L
c.745A>T
1 paper
NM_194284.3
p.K244T
c.731A>C
1 paper
NM_194284.3
p.K238T
c.713A>C
1 paper
NM_194284.3
p.R237ins2
c.710_711ins6
1 paper
NM_194284.3
p.R237C
c.709C>T
4 papers
NM_194284.3
p.P232S
c.694C>T
1 paper
NM_194284.3
p.H280P
c.839A>C
1 paper
NM_194284.3
p.P287T
c.859C>A
6 papers
NM_194284.3
p.V210M
c.628G>A
1 paper
NM_194284.3
p.R202H
c.605G>A
1 paper
NM_194284.3
p.G195R
c.583G>A
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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."