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

3 papers

NM_198834.3

p.R25G

c.73A>G

Surrounding Variants

1 paper

NM_198834.3

p.V24V

c.72A>T

1 paper

NM_198834.3

p.R25R

c.75A>G

1 paper

NM_198834.3

p.I26V

c.76A>G

1 paper

NM_198834.3

p.I26L

c.76A>C

1 paper

NM_198834.3

p.I26S

c.77T>G

1 paper

NM_198834.3

p.I26N

c.77T>A

1 paper

NM_198834.3

p.T23T

c.69A>G

1 paper

NM_198834.3

p.I26_I27insFs

c.78_79insC

2 papers

NM_198834.3

p.I26I

c.78T>A

2 papers

NM_198834.3

p.T23I

c.68C>T

2 papers

NM_198834.3

p.I27L

c.79A>T

2 papers

NM_198834.3

p.I26_I27insFs

c.78_79insT