Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.I113N

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
1 paper
NM_148960.3
p.I113N
c.338T>A
Surrounding Variants
1 paper
NM_148960.3
p.S110R
c.330C>G
1 paper
NM_148960.3
p.S110R
c.330C>A
1 paper
NM_148960.3
p.S110R
c.328A>C
1 paper
NM_148960.3
p.A119V
c.356C>T
1 paper
NM_148960.3
p.R106Q
c.317G>A
6 papers
NM_148960.3
p.G122R
c.364G>C
6 papers
NM_148960.3
p.G122R
c.364G>A
1 paper
NM_148960.3
p.G122V
c.365G>T
9 papers
NM_148960.3
p.G123R
c.367G>C
9 papers
NM_148960.3
p.G123R
c.367G>A
1 paper
NM_148960.3
p.S98delFs
c.292_293delCT
5 papers
NM_148960.3
p.G130C
c.388G>T
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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."