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.E63K

c.187G>A

Surrounding Variants

1 paper

NM_198834.3

p.F56_S62del0

c.168_185del18

1 paper

NM_198834.3

p.E63G

c.188A>G

1 paper

NM_198834.3

p.S62Y

c.185C>A

1 paper

NM_198834.3

p.E63D

c.189A>T

1 paper

NM_198834.3

p.E63D

c.189A>C

1 paper

NM_198834.3

p.S62T

c.184T>A

1 paper

NM_198834.3

p.N65Y

c.193A>T

2 papers

NM_198834.3

p.N65K

c.195C>A

1 paper

NM_198834.3

p.S60T

c.178T>A

1 paper

NM_198834.3

p.G59V

c.176G>T

1 paper

NM_198834.3

p.S66S

c.198A>G

1 paper

NM_198834.3

p.E67Q

c.199G>C