Varaico: Literature-Extracted Genetic Variants

Gene:ACBD6
Variant:p.Q74_V75Splc

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.Q74_V75Splc
c.223-6A>G
Surrounding Variants
1 paper
NM_032360.4
p.Q94*
c.280C>T
1 paper
NM_032360.4
p.K95delFs
c.285delT
1 paper
NM_032360.4
p.K100R
c.299A>G
1 paper
NM_032360.4
p.D104A
c.311A>C
1 paper
NM_032360.4
p.V118I
c.352G>A
2 papers
NM_032360.4
p.K120insFs
c.360dupA
1 paper
NM_032360.4
p.L121fs
c.361_362fs
1 paper
NM_032360.4
p.P123L
c.368C>T
1 paper
NM_032360.4
p.N126H
c.376A>C
1 paper
NM_032360.4
p.K73*
c.217A>T
1 paper
NM_032360.4
p.Y72*
c.216C>G
1 paper
NM_032360.4
p.Y72*
c.216C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."