Varaico: Literature-Extracted Genetic Variants

ACACB

261 papers

RefSeq Summary

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fat...

Pfam Domains

Biotin_carb_Naa 259–379UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 417–616UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 650–758UCSCBiotin carboxylase C-terminal domain

ACCA_BTaa 770–889UCSCAcetyl-CoA carboxylase, BT domain

Biotin_lipoylaa 895–961UCSCBiotin-requiring enzyme

ACC_centralaa 962–1688UCSCAcetyl-CoA carboxylase, central region

Gene Aliases

HGNC Name

acetyl-CoA carboxylase beta

HGNC Alias Symbols

HACC275; ACC2; ACCB; ACC-beta; ACCbeta; ACACbeta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001093.4

p.I552V

c.1654A>G

Surrounding Variants

1 paper

NM_001093.4

p.I552I

c.1656C>T

1 paper

NM_001093.4

p.V558M

c.1672G>A

1 paper

NM_001093.4

p.R584C

c.1750C>T

1 paper

NM_001093.4

p.Q586H

c.1758G>T

1 paper

NM_001093.4

p.E588K

c.1762G>A

1 paper

NM_001093.4

p.H589N

c.1765C>A

1 paper

NM_001093.4

p.E545G

c.1634A>G

1 paper

NM_001093.4

p.F544L

c.1632C>A

1 paper

NM_001093.4

p.F544L

c.1632C>G

1 paper

NM_001093.4

p.F544L

c.1630T>C

1 paper

NM_001093.4

p.A542T

c.1624G>A

1 paper

NM_001093.4

p.A534T

c.1600G>A