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.F17S

c.50T>C

Surrounding Variants

1 paper

NM_001093.4

p.K25E

c.73A>G

1 paper

NM_001093.4

p.C9insFs

c.26_27ins7

1 paper

NM_001093.4

p.S8Y

c.23C>A

1 paper

NM_001093.4

p.D28_K36delFs

c.84_108del25

2 papers

NM_001093.4

p.Q45R

c.134A>G

1 paper

NM_001093.4

p.P47S

c.139C>T

1 paper

NM_001093.4

p.P47L

c.140C>T

1 paper

NM_001093.4

p.S51C

c.152C>G

1 paper

NM_001093.4

p.S72C

c.214A>T

1 paper

NM_001093.4

p.S72T

c.215G>C

1 paper

NM_001093.4

p.Q73P

c.218A>C

1 paper

NM_001093.4

p.P82S

c.244C>T