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

1–12 of 359 variants

6 papers

NM_001093.4

p.A651T

c.1951G>A

4 papers

NM_001093.4

p.D436G

c.1307A>G

4 papers

NM_001093.4

p.R1786Q

c.5357G>A

4 papers

NM_001093.4

p.T2027I

c.6080C>T

4 papers

NM_001093.4

p.V2141I

c.6421G>A

3 papers

NM_001093.4

p.P219L

c.656C>T

3 papers

NM_001093.4

p.I552V

c.1654A>G

3 papers

NM_001093.4

p.L858R

c.2573T>G

3 papers

NM_001093.4

p.N1760S

c.5279A>G

3 papers

NM_001093.4

p.E1815K

c.5443G>A

2 papers

NM_001093.4

p.Q45R

c.134A>G

2 papers

NM_001093.4

p.G119W

c.355G>T