Varaico: Literature-Extracted Genetic Variants

Gene:ACBD6
Variant:p.V28insFs

ACBD6

33 papers

Pfam Domains

ACBPaa 43–118UCSCAcyl CoA binding protein
Ank_2aa 162–255UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

acyl-CoA binding domain containing 6

HGNC Alias Symbol

MGC2404

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032360.4
p.V28insFs
c.82dupG
Surrounding Variants
3 papers
NM_032360.4
p.G22fs
c.64_65fs
1 paper
NM_032360.4
p.E35K
c.103G>A
1 paper
NM_032360.4
p.A49T
c.145G>A
1 paper
NM_032360.4
p.Q54*
c.160C>T
1 paper
NM_032360.4
p.E63*
c.187G>T
2 papers
NM_032360.4
p.A70S
c.208G>T
1 paper
NM_032360.4
p.Y72*
c.216C>G
1 paper
NM_032360.4
p.Y72*
c.216C>A
1 paper
NM_032360.4
p.K73*
c.217A>T
1 paper
NM_032360.4
p.Q74_V75Splc
c.223-6A>G
1 paper
NM_032360.4
p.Q94*
c.280C>T
1 paper
NM_032360.4
p.K95delFs
c.285delT
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