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.K1796M

c.5387A>T

Surrounding Variants

1 paper

NM_198834.3

p.Y1795C

c.5384A>G

1 paper

NM_198834.3

p.D1794_Y1795insFs

c.5382_5383insC

1 paper

NM_198834.3

p.D1794E

c.5382T>G

1 paper

NM_198834.3

p.D1794E

c.5382T>A

1 paper

NM_198834.3

p.S1799G

c.5395A>G

1 paper

NM_198834.3

p.T1791S

c.5372C>G

1 paper

NM_198834.3

p.T1791S

c.5371A>T

2 papers

NM_198834.3

p.P1831P

c.5493C>T

1 paper

NM_198834.3

p.P1831P

c.5493C>G

1 paper

NM_198834.3

p.P1831_E1832insFs

c.5493_5494insG

1 paper

NM_198834.3

p.G1838G

c.5514A>G

1 paper

NM_198834.3

p.L1846L

c.5538G>A