Varaico: Literature-Extracted Genetic Variants

Gene:CLDN9
Variant:p.R158Q

CLDN9

38 papers

RefSeq Summary

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solute...

Pfam Domains

PMP22_Claudinaa 4–181UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020982.4
p.R158Q
c.473G>A
Surrounding Variants
1 paper
NM_020982.4
p.E159K
c.475G>A
1 paper
NM_020982.4
p.E159Q
c.475G>C
2 papers
NM_020982.4
p.G167insFs
c.500dupG
1 paper
NM_020982.4
p.N149N
c.447C>T
2 papers
NM_020982.4
p.W168fs
c.502_503fs
1 paper
NM_020982.4
p.L174P
c.521T>C
1 paper
NM_020982.4
p.T139M
c.416C>T
1 paper
NM_020982.4
p.G178W
c.532G>T
1 paper
NM_020982.4
p.G179G
c.537G>A
1 paper
NM_020982.4
p.E191K
c.571G>A
1 paper
NM_020982.4
p.I124F
c.370A>T
2 papers
NM_020982.4
p.I124ins0
c.370_372dupATC
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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."