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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLDN6

CLDN6

26 papers

RefSeq Summary

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and wat...

Pfam Domains

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

Gene Aliases

HGNC Name

claudin 6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 25 variants

4 papers

chr16:3015396 C>T

NM_021195.5

p.R209Q

c.626G>A

Exome: 0.2% (AC=2718, hom=5)Genome: 0.1% (AC=227, hom=2)6 overlapping SVs

3 papers

chr16:3015634 C>G

NM_021195.5

p.V130L

c.388G>C

PMP22_Claudin

Exome: 1.7% (AC=24571, hom=278)Genome: 1.3% (AC=1959, hom=30)6 overlapping SVs

2 papers

chr16:3015595 T>C

NM_021195.5

p.I143V

c.427A>G

PMP22_Claudin

Exome: 38.4% (AC=560709, hom=109615)Genome: 36.9% (AC=56191, hom=10715)6 overlapping SVs

2 papers

chr16:3015454 AC>A

NM_021195.5

p.G189delFs

c.567delC

Exome: 0.0% (AC=11, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr16:3016011 G>A

NM_021195.5

p.A4V

c.11C>T

PMP22_Claudin

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:3016009 C>G

NM_021195.5

p.G5R

c.13G>C

PMP22_Claudin

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:3016009 C>T

NM_021195.5

p.G5R

c.13G>A

PMP22_Claudin

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

1 paper

chr16:3015928 C>T

NM_021195.5

p.V32M

c.94G>A

PMP22_Claudin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr16:3015923 G>A

NM_021195.5

p.T33T

c.99C>T

PMP22_Claudin

Exome: 20.6% (AC=301375, hom=32258)Genome: 19.7% (AC=30052, hom=3169)6 overlapping SVs

1 paper

chr16:3015843 C>T

NM_021195.5

p.G60D

c.179G>A

PMP22_Claudin

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:3015794 G>A

NM_021195.5

p.D76D

c.228C>T

PMP22_Claudin

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:3015739 A>G

NM_021195.5

p.L95L

c.283T>C

PMP22_Claudin

exact variant not in gnomAD6 overlapping SVs

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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."