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.W275G

c.823T>G

Surrounding Variants

1 paper

NM_198834.3

p.W275L

c.824G>T

1 paper

NM_198834.3

p.W275*

c.824G>A

20 papers

NM_198834.3

p.A273A

c.819C>T

2 papers

NM_198834.3

p.A276V

c.827C>T

1 paper

NM_198834.3

p.A273T

c.817G>A

1 paper

NM_198834.3

p.Q272H

c.816G>T

1 paper

NM_198834.3

p.Q272H

c.816G>C

1 paper

NM_198834.3

p.G278R

c.832G>C

1 paper

NM_198834.3

p.G278R

c.832G>A

1 paper

NM_198834.3

p.G278G

c.834G>A

1 paper

NM_198834.3

p.D279A

c.836A>C

2 papers

NM_198834.3

p.K280R

c.839A>G