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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLDN24

Variant:p.M84V

CLDN24

9 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 7–183UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 24

HGNC Previous Symbol

CLDN21

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:183322177 T>C

NM_001185149.1

p.M84V

c.250A>G

PMP22_Claudin

exact variant not in gnomAD29 overlapping SVs

Surrounding Variants

1 paper

chr4:183322156 C>G

NM_001185149.1

p.G91R

c.271G>C

PMP22_Claudin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr4:183322156 C>T

NM_001185149.1

p.G91R

c.271G>A

PMP22_Claudin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr4:183322147 C>G

NM_001185149.1

p.G94R

c.280G>C

PMP22_Claudin

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr4:183322074 A>G

NM_001185149.1

p.L118P

c.353T>C

PMP22_Claudin

Exome: 0.0% (AC=84, hom=2)Genome: 0.0% (AC=16, hom=0)29 overlapping SVs

5 papers

chr4:183322375 G>A

NM_001185149.1

p.L18F

c.52C>T

PMP22_Claudin

Exome: 79.4% (AC=1158065, hom=461454)Genome: 76.2% (AC=115925, hom=44465)28 overlapping SVs

1 paper

chr4:183321946 C>T

NM_001185149.1

p.E161K

c.481G>A

PMP22_Claudin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr4:183321871 C>T

NM_001185149.1

p.A186T

c.556G>A

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=4, hom=0)28 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."