Varaico: Literature-Extracted Genetic Variants

Gene:CLDN9
Variant:p.D76H

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
2 papers
NM_020982.4
p.D76H
c.226G>C
Surrounding Variants
1 paper
NM_020982.4
p.P74P
c.222G>A
2 papers
NM_020982.4
p.Q78*
c.232C>T
1 paper
NM_020982.4
p.R81H
c.242G>A
1 paper
NM_020982.4
p.L95fs
c.283_284fs
1 paper
NM_020982.4
p.L95delFs
c.284delT
1 paper
NM_020982.4
p.C54*
c.162C>A
1 paper
NM_020982.4
p.V97E
c.290T>A
1 paper
NM_020982.4
p.C104fs
c.310_311fs
1 paper
NM_020982.4
p.C104_C107delFs
c.312_319del8
1 paper
NM_020982.4
p.V45V
c.135G>A
1 paper
NM_020982.4
p.T106T
c.318G>A
1 paper
NM_020982.4
p.C107Y
c.320G>A
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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."