Varaico: Literature-Extracted Genetic Variants

Gene:ACBD6

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
1–12 of 52 variants
3 papers
NM_032360.4
p.G22fs
c.64_65fs
3 papers
NM_032360.4
p.I162_F163delFs
c.484_488del5
2 papers
NM_032360.4
p.A70S
c.208G>T
2 papers
NM_032360.4
p.K120insFs
c.360dupA
2 papers
NM_032360.4
p.E191_G192Splc
c.574-2A>G
2 papers
NM_032360.4
p.R276Q
c.827G>A
1 paper
NM_032360.4
p.V28insFs
c.82dupG
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
1 paper
NM_032360.4
p.Y72*
c.216C>G
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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."