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.M717L

c.2149A>T

Surrounding Variants

1 paper

NM_001093.4

p.M717L

c.2149A>C

1 paper

NM_001093.4

p.V719L

c.2155G>C

1 paper

NM_001093.4

p.V719L

c.2155G>T

1 paper

NM_001093.4

p.G728delFs

c.2184delC

1 paper

NM_001093.4

p.T733T

c.2199C>T

1 paper

NM_001093.4

p.I751V

c.2251A>G

1 paper

NM_001093.4

p.T753T

c.2259C>T

1 paper

NM_001093.4

p.E762_K763insGG

c.2284_2288ins6

2 papers

NM_001093.4

p.Q765_A766Splc

c.2295+1G>A

1 paper

NM_001093.4

p.Q765_A766Splc

c.2296-5C>G

1 paper

NM_001093.4

p.P769L

c.2306C>T

1 paper

NM_001093.4

p.G774R

c.2320G>A