Varaico: Literature-Extracted Genetic Variants

Gene:CLDN20
Variant:p.D195N

CLDN20

11 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 20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001346.3
p.D195N
c.583G>A
Surrounding Variants
1 paper
NM_001001346.3
p.N209S
c.626A>G
1 paper
NM_001001346.3
p.I169S
c.506T>G
1 paper
NM_001001346.3
p.Y165_I166del0
c.493_498del6
1 paper
NM_001001346.3
p.V152I
c.454G>A
1 paper
NM_001001346.3
p.R106C
c.316C>T
1 paper
NM_001001346.3
p.S98S
c.294C>T
3 papers
NM_001001346.3
p.G94E
c.281G>A
1 paper
NM_001001346.3
p.A4G
c.11C>G
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."