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.A2138T

c.6412G>A

Surrounding Variants

1 paper

NM_001093.4

p.A2138S

c.6412G>T

4 papers

NM_001093.4

p.V2141I

c.6421G>A

1 paper

NM_001093.4

p.P2131A

c.6391C>G

1 paper

NM_001093.4

p.R2146W

c.6436C>T

1 paper

NM_001093.4

p.D2166Splc

c.6496+105C>G

1 paper

NM_001093.4

p.V2106M

c.6316G>A

1 paper

NM_001093.4

p.V2104M

c.6310G>A

2 papers

NM_001093.4

p.R2102Q

c.6305G>A

1 paper

NM_001093.4

p.A2098V

c.6293C>T

1 paper

NM_001093.4

p.V2094L

c.6280G>C

1 paper

NM_001093.4

p.V2094L

c.6280G>T

1 paper

NM_001093.4

p.I2092N

c.6275T>A