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.A167E

c.500C>A

Surrounding Variants

1 paper

NM_198834.3

p.A167G

c.500C>G

2 papers

NM_198834.3

p.V168M

c.502G>A

1 paper

NM_198834.3

p.V168A

c.503T>C

1 paper

NM_198834.3

p.A166T

c.496G>A

1 paper

NM_198834.3

p.I165I

c.495T>C

1 paper

NM_198834.3

p.V168del1

c.502_504delCAC

1 paper

NM_198834.3

p.C170F

c.509G>T

2 papers

NM_198834.3

p.M171V

c.511A>G

1 paper

NM_198834.3

p.M171insFs

c.512_513ins4

1 paper

NM_198834.3

p.N163I

c.488A>T

1 paper

NM_198834.3

p.N163T

c.488A>C

1 paper

NM_198834.3

p.M171I

c.513G>A