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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARID5B

Variant:p.A245Splc

ARID5B

277 papers

RefSeq Summary

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regula...

Pfam Domains

ARIDaa 320–406UCSCARID/BRIGHT DNA binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 5B

HGNC Alias Symbols

FLJ21150; MRF2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:62045858 T>C

NM_032199.3

p.A245Splc

c.734-5030T>C

Exome: n/aGenome: 55.3% (AC=84127, hom=23966)30 overlapping SVs

Surrounding Variants

1 paper

chr10:62050889 G>A

NM_032199.3

p.A245A

c.735G>A

Exome: 0.0% (AC=56, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr10:62050903 G>A

NM_032199.3

p.G250D

c.749G>A

exact variant not in gnomAD28 overlapping SVs

1 paper

chr10:62050912 G>A

NM_032199.3

p.R253H

c.758G>A

Exome: 0.0% (AC=7, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr10:62050941 G>A

NM_032199.3

p.D263N

c.787G>A

exact variant not in gnomAD28 overlapping SVs

1 paper

chr10:62050965 T>G

NM_032199.3

p.S271A

c.811T>G

exact variant not in gnomAD28 overlapping SVs

4 papers

chr10:62050980 G>A

NM_032199.3

p.D276N

c.826G>A

Exome: 0.0% (AC=79, hom=0)Genome: 0.0% (AC=25, hom=1)28 overlapping SVs

1 paper

chr10:62050992 G>A

NM_032199.3

p.V280I

c.838G>A

Exome: 0.0% (AC=13, hom=0)Genome: n/a28 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."