Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.Q57E

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
16 papers
NM_148960.3
p.Q57E
c.169C>G
Surrounding Variants
6 papers
NM_148960.3
p.Q57*
c.169C>T
1 paper
NM_148960.3
p.C54*
c.162C>A
2 papers
NM_148960.3
p.M52I
c.156G>T
2 papers
NM_148960.3
p.M52I
c.156G>C
2 papers
NM_148960.3
p.M52I
c.156G>A
1 paper
NM_148960.3
p.W51C
c.153G>T
1 paper
NM_148960.3
p.W51C
c.153G>C
1 paper
NM_148960.3
p.L50F
c.148C>T
2 papers
NM_148960.3
p.Y47delFs
c.140_141delAT
1 paper
NM_148960.3
p.Y47*
c.141T>G
1 paper
NM_148960.3
p.Y47*
c.141T>A
5 papers
NM_148960.3
p.V44L
c.130G>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."