Varaico: Literature-Extracted Genetic Variants

Gene:DACH1
Variant:p.V223L

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080759.6
p.V223L
c.667G>C
Surrounding Variants
1 paper
NM_080759.6
p.K220_G225del6
c.658_674del18
1 paper
NM_080759.6
p.R235insFs
c.704dupG
1 paper
NM_080759.6
p.K232_E237del6
c.694_710del18
2 papers
NM_080759.6
p.C243_N244insGGC
c.727_731ins9
1 paper
NM_080759.6
p.C243_N244ins6
c.727_731ins18
1 paper
NM_080759.6
p.C243_N244ins9
c.727_731ins27
1 paper
NM_080759.6
p.V203_E204insGG
c.607_611ins6
1 paper
NM_080759.6
p.R235_C243del9
c.703_728del27
4 papers
NM_080759.6
p.N244_R249del6
c.730_746del18
4 papers
NM_080759.6
p.C188Y
c.563G>A
1 paper
NM_080759.6
p.G260A
c.779G>C
1 paper
NM_080759.6
p.S174L
c.521C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."