Varaico: Literature-Extracted Genetic Variants

Gene:CLDN8
Variant:p.Q206H

CLDN8

26 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 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199328.3
p.Q206H
c.618A>C
Surrounding Variants
1 paper
NM_199328.3
p.Q206H
c.618A>T
1 paper
NM_199328.3
p.P216L
c.647C>T
1 paper
NM_199328.3
p.S192C
c.574A>T
1 paper
NM_199328.3
p.S192G
c.574A>G
1 paper
NM_199328.3
p.G178E
c.533G>A
1 paper
NM_199328.3
p.T171M
c.512C>T
1 paper
NM_199328.3
p.L165V
c.493C>G
1 paper
NM_199328.3
p.E160E
c.480G>A
2 papers
NM_199328.3
p.S151P
c.451T>C
3 papers
NM_199328.3
p.T129A
c.385A>G
1 paper
NM_199328.3
p.G123E
c.368G>A
1 paper
NM_199328.3
p.H117N
c.349C>A
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