Varaico: Literature-Extracted Genetic Variants

Gene:DACH2
Variant:p.R412K

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
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_053281.3
p.R412K
c.1235G>A
Surrounding Variants
1 paper
NM_053281.3
p.L410L
c.1230G>A
1 paper
NM_053281.3
p.L410fs
c.1228_1229fs
1 paper
NM_053281.3
p.H409delFs
c.1227delT
1 paper
NM_053281.3
p.H409del1
c.1225_1226delCAT
1 paper
NM_053281.3
p.T395I
c.1184C>T
1 paper
NM_053281.3
p.S389I
c.1166G>T
1 paper
NM_053281.3
p.P379L
c.1136C>T
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