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.T95T

c.285A>T

Surrounding Variants

1 paper

NM_198834.3

p.T95I

c.284C>T

1 paper

NM_198834.3

p.L96I

c.286C>A

1 paper

NM_198834.3

p.L96H

c.287T>A

1 paper

NM_198834.3

p.S97P

c.289T>C

1 paper

NM_198834.3

p.S97T

c.289T>A

3 papers

NM_198834.3

p.D94G

c.281A>G

2 papers

NM_198834.3

p.D94A

c.281A>C

1 paper

NM_198834.3

p.G92_D94delFs

c.276_280del5

2 papers

NM_198834.3

p.D94Y

c.280G>T

1 paper

NM_198834.3

p.D94H

c.280G>C

2 papers

NM_198834.3

p.D94N

c.280G>A

1 paper

NM_198834.3

p.S97S

c.291T>C