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.W1849*

c.5546G>A

Surrounding Variants

1 paper

NM_001093.4

p.W1849*

c.5547G>A

1 paper

NM_001093.4

p.I1841M

c.5523C>G

1 paper

NM_001093.4

p.R1834H

c.5501G>A

1 paper

NM_001093.4

p.G1832V

c.5495G>T

1 paper

NM_001093.4

p.K1824I

c.5471A>T

3 papers

NM_001093.4

p.E1815K

c.5443G>A

1 paper

NM_001093.4

p.E1815*

c.5443G>T

1 paper

NM_001093.4

p.L1809P

c.5426T>C

1 paper

NM_001093.4

p.G1800V

c.5399G>T

1 paper

NM_001093.4

p.R1798C

c.5392C>T

1 paper

NM_001093.4

p.V1790A

c.5369T>C

1 paper

NM_001093.4

p.I1789I

c.5367C>A