Varaico: Literature-Extracted Genetic Variants

Gene:CLDN8
Variant:p.A94V

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.A94V
c.281C>T
Surrounding Variants
2 papers
NM_199328.3
p.M97T
c.290T>C
1 paper
NM_199328.3
p.S88S
c.264C>A
1 paper
NM_199328.3
p.T108M
c.323C>T
1 paper
NM_199328.3
p.H117N
c.349C>A
1 paper
NM_199328.3
p.G123E
c.368G>A
3 papers
NM_199328.3
p.T129A
c.385A>G
1 paper
NM_199328.3
p.V41M
c.121G>A
2 papers
NM_199328.3
p.S151P
c.451T>C
1 paper
NM_199328.3
p.E160E
c.480G>A
1 paper
NM_199328.3
p.L165V
c.493C>G
1 paper
NM_199328.3
p.T171M
c.512C>T
1 paper
NM_199328.3
p.G178E
c.533G>A
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