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.M1insFs

c.1_2insG

Surrounding Variants

1 paper

NM_198834.3

p.M1L

c.1A>T

3 papers

NM_198834.3

p.M1V

c.1A>G

1 paper

NM_198834.3

p.M1ins2

c.1_2ins6

1 paper

NM_198834.3

p.M1insFs

c.1_2insC

1 paper

NM_198834.3

p.M1insFs

c.2_3insC

2 papers

NM_198834.3

p.M1K

c.2T>A

1 paper

NM_198834.3

p.M1Fs

c.2delinsAAAFs

2 papers

NM_198834.3

p.M1I

c.3G>T

2 papers

NM_198834.3

p.M1insFs

c.2dupT

1 paper

NM_198834.3

p.M1I

c.3G>C

1 paper

NM_198834.3

p.M1I

c.3G>A

1 paper

NM_198834.3

p.W2R

c.4T>C