Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.G130D

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
7 papers
NM_148960.3
p.G130D
c.389G>A
Surrounding Variants
6 papers
NM_148960.3
p.G130C
c.388G>T
1 paper
NM_148960.3
p.L131R
c.392T>G
1 paper
NM_148960.3
p.T133I
c.398C>T
1 paper
NM_148960.3
p.T135fs
c.403_404fs
2 papers
NM_148960.3
p.T135_A136delFs
c.403_406del4
1 paper
NM_148960.3
p.E147del1
c.439_440delCTC
1 paper
NM_148960.3
p.P151P
c.453A>G
5 papers
NM_148960.3
p.G130C
c.388G>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.G122V
c.365G>T
6 papers
NM_148960.3
p.G122R
c.364G>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."