Varaico: Literature-Extracted Genetic Variants

ACACA

1,730 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 117–237UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 272–473UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 507–615UCSCBiotin carboxylase C-terminal domain

ACCA_BTaa 627–746UCSCAcetyl-CoA carboxylase, BT domain

Biotin_lipoylaa 752–818UCSCBiotin-requiring enzyme

ACC_centralaa 819–1569UCSCAcetyl-CoA carboxylase, central region

Gene Aliases

HGNC Name

acetyl-CoA carboxylase alpha

HGNC Previous Symbols

ACAC; ACC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198834.3

p.D198N

c.592G>A

Surrounding Variants

1 paper

NM_198834.3

p.E197V

c.590A>T

1 paper

NM_198834.3

p.E197K

c.589G>A

1 paper

NM_198834.3

p.P196A

c.586C>G

1 paper

NM_198834.3

p.K200*

c.598A>T

1 paper

NM_198834.3

p.K200Q

c.598A>C

1 paper

NM_198834.3

p.A201T

c.601G>A

1 paper

NM_198834.3

p.A201V

c.602C>T

1 paper

NM_198834.3

p.V194A

c.581T>C

1 paper

NM_198834.3

p.V194insFs

c.580_581ins40

1 paper

NM_198834.3

p.N202D

c.604A>G

1 paper

NM_198834.3

p.N202S

c.605A>G

1 paper

NM_198834.3

p.A203S

c.607G>T