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.L78V

c.232C>G

Surrounding Variants

1 paper

NM_198834.3

p.D77E

c.231C>G

1 paper

NM_198834.3

p.D77E

c.231C>A

1 paper

NM_198834.3

p.D77V

c.230A>T

1 paper

NM_198834.3

p.L78L

c.234A>G

1 paper

NM_198834.3

p.D77G

c.230A>G

1 paper

NM_198834.3

p.D77A

c.230A>C

1 paper

NM_198834.3

p.L79delFs

c.235delG

1 paper

NM_198834.3

p.L76L

c.228G>A

1 paper

NM_198834.3

p.L76L

c.226T>C

1 paper

NM_198834.3

p.E80Q

c.238G>C

5 papers

NM_198834.3

p.E80K

c.238G>A

1 paper

NM_198834.3

p.K75N

c.225G>T