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.F254L

c.762T>G

Surrounding Variants

1 paper

NM_001093.4

p.F254L

c.762T>A

1 paper

NM_001093.4

p.G255insFs

c.763dupG

1 paper

NM_001093.4

p.F254_G255insFs

c.762_763insGG

2 papers

NM_001093.4

p.G255fs

c.763_764fs

1 paper

NM_001093.4

p.G255V

c.764G>T

1 paper

NM_001093.4

p.F254L

c.760T>C

1 paper

NM_001093.4

p.F254fs

c.760_761fs

1 paper

NM_001093.4

p.G255G

c.765G>A

1 paper

NM_001093.4

p.R258W

c.772C>T

1 paper

NM_001093.4

p.R258Q

c.773G>A

1 paper

NM_001093.4

p.E261K

c.781G>A

1 paper

NM_001093.4

p.T243N

c.728C>A