Varaico: Literature-Extracted Genetic Variants

Gene:CLDN5
Variant:p.N39S

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
3 papers
NM_001363066.2
p.N39S
c.116A>G
Surrounding Variants
1 paper
NM_001363066.2
p.N39delFs
c.115delT
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.F35L
c.105C>G
2 papers
NM_001363066.2
p.F35L
c.105C>A
2 papers
NM_001363066.2
p.F35L
c.103T>C
1 paper
NM_001363066.2
p.Q31Q
c.93G>A
1 paper
NM_001363066.2
p.W51R
c.151T>A
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
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