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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DACH1

Variant:p.D538G

DACH1

92 papers

RefSeq Summary

This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein co...

Pfam Domains

Ski_Sno_DHDaa 171–281UCSCSKI/SNO/DAC Dachshund homology domain

Gene Aliases

HGNC Name

dachshund family transcription factor 1

HGNC Previous Names

dachshund homolog (Drosophila); dachshund homolog 1 (Drosophila)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr13:71489106 T>C

NM_080759.6

p.D538G

c.1613A>G

exact variant not in gnomAD12 overlapping SVs

Surrounding Variants

3 papers

chr13:71489124 G>A

NM_080759.6

p.T532I

c.1595C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr13:71489058 G>A

NM_080759.6

p.P554L

c.1661C>T

exact variant not in gnomAD12 overlapping SVs

1 paper

chr13:71489056 A>G

NM_080759.6

p.S555P

c.1663T>C

Exome: 0.1% (AC=774, hom=6)Genome: 0.1% (AC=91, hom=0)12 overlapping SVs

1 paper

chr13:71479257 T>A

NM_080759.6

p.E594D

c.1782A>T

exact variant not in gnomAD12 overlapping SVs

1 paper

chr13:71479257 T>G

NM_080759.6

p.E594D

c.1782A>C

exact variant not in gnomAD12 overlapping SVs

1 paper

chr13:71479184 C>A

NM_080759.6

p.E619*

c.1855G>T

exact variant not in gnomAD12 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."