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

1 paper

NM_001093.4

p.I931M

c.2793C>G

Surrounding Variants

1 paper

NM_001093.4

p.I931V

c.2791A>G

1 paper

NM_001093.4

p.M930V

c.2788A>G

1 paper

NM_001093.4

p.V927A

c.2780T>C

1 paper

NM_001093.4

p.Q937H

c.2811G>C

1 paper

NM_001093.4

p.Q937H

c.2811G>T

1 paper

NM_001093.4

p.G949V

c.2846G>T

1 paper

NM_001093.4

p.A950A

c.2850C>T

1 paper

NM_001093.4

p.E953K

c.2857G>A

1 paper

NM_001093.4

p.V957M

c.2869G>A

1 paper

NM_001093.4

p.A959V

c.2876C>T

1 paper

NM_001093.4

p.L961M

c.2881C>A

1 paper

NM_001093.4

p.P966L

c.2897C>T