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.A507T

c.1519G>A

Surrounding Variants

1 paper

NM_001093.4

p.Q509R

c.1526A>G

1 paper

NM_001093.4

p.G511A

c.1532G>C

1 paper

NM_001093.4

p.R499H

c.1496G>A

1 paper

NM_001093.4

p.H497H

c.1491C>T

1 paper

NM_001093.4

p.S522C

c.1565C>G

1 paper

NM_001093.4

p.Q524del1

c.1570_1571delCAG

2 papers

NM_001093.4

p.R525W

c.1573C>T

1 paper

NM_001093.4

p.S487L

c.1460C>T

1 paper

NM_001093.4

p.K529Q

c.1585A>C

1 paper

NM_001093.4

p.A534T

c.1600G>A

1 paper

NM_001093.4

p.A542T

c.1624G>A

1 paper

NM_001093.4

p.F544L

c.1630T>C