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.Y179H

c.535T>C

Surrounding Variants

3 papers

NM_198834.3

p.Y179C

c.536A>G

1 paper

NM_198834.3

p.E180G

c.539A>G

1 paper

NM_198834.3

p.M181L

c.541A>T

1 paper

NM_198834.3

p.M181L

c.541A>C

1 paper

NM_198834.3

p.R176K

c.527G>A

1 paper

NM_198834.3

p.R176G

c.526A>G

2 papers

NM_198834.3

p.R175P

c.524G>C

8 papers

NM_198834.3

p.R175H

c.524G>A

1 paper

NM_198834.3

p.R175G

c.523C>G

1 paper

NM_198834.3

p.R183Q

c.548G>A

1 paper

NM_198834.3

p.I174S

c.521T>G

1 paper

NM_198834.3

p.I174T

c.521T>C