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.L115P

c.344T>C

Surrounding Variants

1 paper

NM_001093.4

p.Q116_N118del0

c.346_354del9

1 paper

NM_001093.4

p.E114fs

c.340_341fs

1 paper

NM_001093.4

p.E114fs

c.340_341fs

1 paper

NM_001093.4

p.E114insFs

c.340dupG

1 paper

NM_001093.4

p.E114Fs

c.340delinsAGFs

2 papers

NM_001093.4

p.G119W

c.355G>T

1 paper

NM_001093.4

p.G119V

c.356G>T

1 paper

NM_001093.4

p.D108D

c.324C>T

1 paper

NM_001093.4

p.Q123R

c.368A>G

1 paper

NM_001093.4

p.S106S

c.318C>A

1 paper

NM_001093.4

p.D129Y

c.385G>T

1 paper

NM_001093.4

p.G132C

c.394G>T