Varaico: Literature-Extracted Genetic Variants

Gene:CLDN5

CLDN5

61 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 89–266UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 5

HGNC Previous Symbols

AWAL; TMVCF

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
8 papers
NM_001363066.2
p.G60R
c.178G>C
8 papers
NM_001363066.2
p.G60R
c.178G>A
3 papers
NM_001363066.2
p.F35L
c.105C>G
3 papers
NM_001363066.2
p.N39S
c.116A>G
3 papers
NM_001363066.2
p.I40V
c.118A>G
3 papers
NM_001363066.2
p.V41M
c.121G>A
3 papers
NM_001363066.2
p.A43P
c.127G>C
3 papers
NM_001363066.2
p.V55A
c.164T>C
3 papers
NM_001363066.2
p.S58R
c.172A>C
3 papers
NM_001363066.2
p.S58R
c.174C>G
3 papers
NM_001363066.2
p.S58R
c.174C>A
3 papers
NM_001363066.2
p.Q63K
c.187C>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."