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.I9N

c.26T>A

Surrounding Variants

1 paper

NM_198834.3

p.I9insFs

c.26_27ins7

1 paper

NM_198834.3

p.I9I

c.27C>T

1 paper

NM_198834.3

p.I9F

c.25A>T

1 paper

NM_198834.3

p.I9L

c.25A>C

1 paper

NM_198834.3

p.L10M

c.28T>A

1 paper

NM_198834.3

p.L10insFs

c.29_30insC

1 paper

NM_198834.3

p.S8*

c.23C>A

1 paper

NM_198834.3

p.L10insFs

c.28dupT

1 paper

NM_198834.3

p.L10delFs

c.28delA

1 paper

NM_198834.3

p.M7I

c.21G>A

1 paper

NM_198834.3

p.R11S

c.33G>C

2 papers

NM_198834.3

p.L6L

c.18G>T