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.F15L

c.45T>A

Surrounding Variants

1 paper

NM_198834.3

p.F15L

c.45T>G

1 paper

NM_198834.3

p.F15F

c.45T>C

1 paper

NM_198834.3

p.W16R

c.46T>C

1 paper

NM_198834.3

p.F15L

c.43T>C

1 paper

NM_198834.3

p.S14_F15insFs

c.42_43ins5

1 paper

NM_198834.3

p.S14delins

c.42delinsCTCG

4 papers

NM_198834.3

p.W16_K17insFs

c.48_49insC

1 paper

NM_198834.3

p.S14C

c.41C>G

2 papers

NM_198834.3

p.S14Y

c.41C>A

1 paper

NM_198834.3

p.K17*

c.49A>T

1 paper

NM_198834.3

p.K17E

c.49A>G

1 paper

NM_198834.3

p.K17_W18insGG

c.49_53ins6