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.L858R

c.2573T>G

Surrounding Variants

1 paper

NM_001093.4

p.L857L

c.2571C>T

1 paper

NM_001093.4

p.G856R

c.2566G>A

1 paper

NM_001093.4

p.G856R

c.2566G>C

1 paper

NM_001093.4

p.R851Q

c.2552G>A

1 paper

NM_001093.4

p.H850Y

c.2548C>T

1 paper

NM_001093.4

p.L838P

c.2513T>C

1 paper

NM_001093.4

p.M835V

c.2503A>G

1 paper

NM_001093.4

p.G913R

c.2737G>A

1 paper

NM_001093.4

p.G913R

c.2737G>C

1 paper

NM_001093.4

p.M925L

c.2773A>C

1 paper

NM_001093.4

p.M925L

c.2773A>T

1 paper

NM_001093.4

p.G801D

c.2402G>A