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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ISX

ISX

14 papers

RefSeq Summary

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as t...

Pfam Domains

Homeodomainaa 83–139UCSCHomeodomain

Gene Aliases

HGNC Name

intestine specific homeobox

HGNC Alias Symbol

RAXLX

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

4 papers

chr22:35082536 G>A

NM_001303508.2

p.R83Q

c.248G>A

Homeodomain

Exome: 5.2% (AC=75284, hom=2224)Genome: 3.9% (AC=5963, hom=154)8 overlapping SVs

2 papers

chr22:35067256 C>T

NM_001303508.2

p.P57S

c.169C>T

Exome: 50.7% (AC=734756, hom=188764)Genome: 51.0% (AC=77483, hom=20057)9 overlapping SVs

1 paper

chr22:35067117 C>A

NM_001303508.2

p.C10*

c.30C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr22:35067122 G>A

NM_001303508.2

p.G12D

c.35G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr22:35082544 C>T

NM_001303508.2

p.R86C

c.256C>T

Homeodomain

Exome: 0.0% (AC=152, hom=1)Genome: 0.0% (AC=9, hom=0)8 overlapping SVs

1 paper

chr22:35084414 G>A

NM_001303508.2

p.R138Q

c.413G>A

Homeodomain

Exome: 0.0% (AC=131, hom=0)Genome: 0.0% (AC=24, hom=0)7 overlapping SVs

1 paper

chr22:35084449 C>T

NM_001303508.2

p.Q150*

c.448C>T

Exome: 0.0% (AC=111, hom=0)Genome: 0.0% (AC=9, hom=0)7 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."