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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BEX2

Variant:p.E35insFs

BEX2

8 papers

RefSeq Summary

This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element ...

Pfam Domains

BEXaa 14–124UCSCBrain expressed X-linked like family

Gene Aliases

HGNC Name

brain expressed X-linked 2

HGNC Alias Symbol

DJ79P11.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chrX:103309871 G>GC

NM_032621.4

p.E35insFs

c.105dupG

BEX

exact variant not in gnomAD47 overlapping SVs

Surrounding Variants

1 paper

chrX:103309861 A>AGGGC

NM_032621.4

p.A38_L39insFs

c.112_115dup4

BEX

exact variant not in gnomAD47 overlapping SVs

1 paper

chrX:103309903 T>C

NM_032621.4

p.D25G

c.74A>G

BEX

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)47 overlapping SVs

1 paper

chrX:103309819 C>T

NM_032621.4

p.R53H

c.158G>A

BEX

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)47 overlapping SVs

1 paper

chrX:103309802 T>C

NM_032621.4

p.R59G

c.175A>G

BEX

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=6, hom=0)47 overlapping SVs

1 paper

chrX:103309783 T>C

NM_032621.4

p.Y65C

c.194A>G

BEX

Exome: 0.0% (AC=289, hom=0)Genome: 0.0% (AC=32, hom=0)47 overlapping SVs

2 papers

chrX:103309976 T>C

NM_032621.4

p.M1V

c.1A>G

BEX

Exome: 0.0% (AC=2, hom=0)Genome: n/a47 overlapping SVs

1 paper

chrX:103309687 T>C

NM_032621.4

p.E97G

c.290A>G

BEX

exact variant not in gnomAD47 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."