Varaico: Literature-Extracted Genetic Variants

Gene:DAB1
Variant:p.G382C

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
2 papers
NM_001365792.1
p.G382C
c.1144G>T
Surrounding Variants
2 papers
NM_001365792.1
p.V390I
c.1168G>A
1 paper
NM_001365792.1
p.S396F
c.1187C>T
1 paper
NM_001365792.1
p.P362P
c.1086G>A
1 paper
NM_001365792.1
p.G359E
c.1076G>A
1 paper
NM_001365792.1
p.M410T
c.1229T>C
1 paper
NM_001365792.1
p.Q352*
c.1054C>T
1 paper
NM_001365792.1
p.P348S
c.1042C>T
1 paper
NM_001365792.1
p.P424S
c.1270C>T
1 paper
NM_001365792.1
p.P424L
c.1271C>T
1 paper
NM_001365792.1
p.P424Q
c.1271C>A
1 paper
NM_001365792.1
p.P334S
c.1000C>T
1 paper
NM_001365792.1
p.S435P
c.1303T>C
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