Varaico: Literature-Extracted Genetic Variants

Gene:DAB1
Variant:p.G23Splc

DAB1

102 papers

RefSeq Summary

The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing ...

Pfam Domains

DAB2_SBMaa 27–50UCSCDisabled homolog 2-like, sulfatide-binding motifs
PIDaa 42–168UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

DAB adaptor protein 1

HGNC Previous Names

disabled (Drosophila) homolog 1; disabled homolog 1 (Drosophila); Dab reelin signal transducer 1; Dab, reelin signal transducer, homolog 1 (Drosophila); DAB1, reelin adaptor protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001365792.1
p.G23Splc
c.67+1G>T
Surrounding Variants
1 paper
NM_001365792.1
p.R20fs
c.58_59fs
1 paper
NM_001365792.1
p.T13fs
c.37_38fs
2 papers
NM_001365792.1
p.V9G
c.26T>G
1 paper
NM_001365792.1
p.Q8insFs
c.22dupC
1 paper
NM_001365792.1
p.Q8E
c.22C>G
1 paper
NM_001365792.1
p.Q8fs
c.22_23fs
1 paper
NM_001365792.1
p.E4D
c.12G>C
4 papers
NM_001365792.1
p.T3N
c.8C>A
1 paper
NM_001365792.1
p.M1V
c.1A>G
1 paper
NM_001365792.1
p.G23Splc
c.67+130T>A
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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."