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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DACH2

Variant:p.G180S

DACH2

67 papers

RefSeq Summary

This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fl...

Pfam Domains

Ski_Sno_DHDaa 55–161UCSCSKI/SNO/DAC Dachshund homology domain

Gene Aliases

HGNC Name

dachshund family transcription factor 2

HGNC Previous Name

dachshund homolog 2 (Drosophila)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chrX:86514289 G>A

NM_053281.3

p.G180S

c.538G>A

Exome: 0.0% (AC=122, hom=0)Genome: 0.0% (AC=6, hom=0)52 overlapping SVs

Surrounding Variants

1 paper

chrX:86514286 C>A

NM_053281.3

p.P179T

c.535C>A

exact variant not in gnomAD52 overlapping SVs

1 paper

chrX:86514304 C>A

NM_053281.3

p.R185S

c.553C>A

exact variant not in gnomAD52 overlapping SVs

1 paper

chrX:86514304 C>T

NM_053281.3

p.R185C

c.553C>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=7, hom=0)52 overlapping SVs

1 paper

chrX:86514305 G>A

NM_053281.3

p.R185H

c.554G>A

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)52 overlapping SVs

1 paper

chrX:86514344 C>T

NM_053281.3

p.T198I

c.593C>T

exact variant not in gnomAD52 overlapping SVs

1 paper

chrX:86514346 C>T

NM_053281.3

p.H199Y

c.595C>T

exact variant not in gnomAD52 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."