Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.V88E

CLDN19

106 papers

RefSeq Summary

The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. De...

Pfam Domains

PMP22_Claudinaa 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_148960.3
p.V88E
c.263T>A
Surrounding Variants
3 papers
NM_148960.3
p.L90R
c.269T>G
19 papers
NM_148960.3
p.L90P
c.269T>C
1 paper
NM_148960.3
p.F92F
c.276C>T
1 paper
NM_148960.3
p.V93M
c.277G>A
1 paper
NM_148960.3
p.A94T
c.280G>A
1 paper
NM_148960.3
p.R81Q
c.242G>A
8 papers
NM_148960.3
p.R81W
c.241C>T
1 paper
NM_148960.3
p.S98delFs
c.292_293delCT
3 papers
NM_148960.3
p.G75C
c.223G>T
5 papers
NM_148960.3
p.G75S
c.223G>A
1 paper
NM_148960.3
p.R106Q
c.317G>A
1 paper
NM_148960.3
p.S110R
c.328A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."