Varaico: Literature-Extracted Genetic Variants

Gene:DAB1
Variant:p.P213L

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.P213L
c.638C>T
Surrounding Variants
1 paper
NM_001365792.1
p.R211H
c.632G>A
1 paper
NM_001365792.1
p.R211C
c.631C>T
3 papers
NM_001365792.1
p.Y220F
c.659A>T
1 paper
NM_001365792.1
p.Y200*
c.600C>G
1 paper
NM_001365792.1
p.Y200F
c.599A>T
3 papers
NM_001365792.1
p.Y198F
c.593A>T
2 papers
NM_001365792.1
p.Y185F
c.554A>T
1 paper
NM_001365792.1
p.D177N
c.529G>A
1 paper
NM_001365792.1
p.K165E
c.493A>G
1 paper
NM_001365792.1
p.L160I
c.478C>A
2 papers
NM_001365792.1
p.F158V
c.472T>G
1 paper
NM_001365792.1
p.L157L
c.471C>T
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