Varaico: Literature-Extracted Genetic Variants

Gene:DAB1
Variant:p.A103_Q105del0

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
1 paper
NM_001365792.1
p.A103_Q105del0
c.307_315del9
Surrounding Variants
1 paper
NM_001365792.1
p.A103_H106delFs
c.307_316del10
1 paper
NM_001365792.1
p.H106Q
c.318T>G
1 paper
NM_001365792.1
p.H106Q
c.318T>A
3 papers
NM_001365792.1
p.G102_A103Splc
c.307-2A>T
1 paper
NM_001365792.1
p.S114T
c.340T>A
1 paper
NM_001365792.1
p.V129I
c.385G>A
1 paper
NM_001365792.1
p.H136N
c.406C>A
1 paper
NM_001365792.1
p.A146V
c.437C>T
1 paper
NM_001365792.1
p.I151V
c.451A>G
1 paper
NM_001365792.1
p.L157L
c.471C>T
2 papers
NM_001365792.1
p.F158V
c.472T>G
1 paper
NM_001365792.1
p.L160I
c.478C>A
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