Varaico: Literature-Extracted Genetic Variants

Gene:CLDN9
Variant:p.E191K

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.E191K
c.571G>A
Surrounding Variants
1 paper
NM_020982.4
p.R194H
c.581G>A
1 paper
NM_020982.4
p.Y200N
c.598T>A
1 paper
NM_020982.4
p.S201P
c.601T>C
1 paper
NM_020982.4
p.G179G
c.537G>A
1 paper
NM_020982.4
p.G178W
c.532G>T
1 paper
NM_020982.4
p.S204P
c.610T>C
1 paper
NM_020982.4
p.L174P
c.521T>C
1 paper
NM_020982.4
p.G210G
c.630A>G
2 papers
NM_020982.4
p.W168fs
c.502_503fs
2 papers
NM_020982.4
p.G167insFs
c.500dupG
1 paper
NM_020982.4
p.E159K
c.475G>A
1 paper
NM_020982.4
p.E159Q
c.475G>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."