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

2 papers

NM_001093.4

p.G646D

c.1937G>A

Surrounding Variants

6 papers

NM_001093.4

p.A651T

c.1951G>A

1 paper

NM_001093.4

p.P638T

c.1912C>A

1 paper

NM_001093.4

p.S655G

c.1963A>G

1 paper

NM_001093.4

p.R615W

c.1843C>T

1 paper

NM_001093.4

p.G661fs

c.1981_1982fs

1 paper

NM_001093.4

p.G667R

c.1999G>A

1 paper

NM_001093.4

p.G667R

c.1999G>C

1 paper

NM_001093.4

p.G667W

c.1999G>T

1 paper

NM_001093.4

p.V669I

c.2005G>A

1 paper

NM_001093.4

p.E671A

c.2012A>C

1 paper

NM_001093.4

p.V680M

c.2038G>A

1 paper

NM_001093.4

p.A687G

c.2060C>G