Varaico: Literature-Extracted Genetic Variants

Gene:CLDN5
Variant:p.W51R

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
Selected Variant
1 paper
NM_001363066.2
p.W51R
c.151T>A
Surrounding Variants
1 paper
NM_001363066.2
p.C54S
c.160T>A
1 paper
NM_001363066.2
p.C54S
c.161G>C
1 paper
NM_001363066.2
p.V55M
c.163G>A
3 papers
NM_001363066.2
p.V55A
c.164T>C
1 paper
NM_001363066.2
p.V55V
c.165G>A
1 paper
NM_001363066.2
p.Q57E
c.169C>G
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.A43P
c.127G>C
8 papers
NM_001363066.2
p.G60R
c.178G>C
8 papers
NM_001363066.2
p.G60R
c.178G>A
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