Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19

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
1–12 of 81 variants
42 papers
NM_148960.3
p.G20D
c.59G>A
19 papers
NM_148960.3
p.L90P
c.269T>C
16 papers
NM_148960.3
p.Q57E
c.169C>G
10 papers
NM_148960.3
p.P28L
c.83C>T
9 papers
NM_148960.3
p.G123R
c.367G>C
9 papers
NM_148960.3
p.G123R
c.367G>A
8 papers
NM_148960.3
p.R81W
c.241C>T
7 papers
NM_148960.3
p.G130D
c.389G>A
6 papers
NM_148960.3
p.V44M
c.130G>A
6 papers
NM_148960.3
p.Q57*
c.169C>T
6 papers
NM_148960.3
p.V88E
c.263T>A
6 papers
NM_148960.3
p.G122R
c.364G>C
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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."