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

2 papers

NM_198834.3

p.L6M

c.16C>A

Surrounding Variants

1 paper

NM_198834.3

p.L6L

c.16C>T

1 paper

NM_198834.3

p.L6insFs

c.17_18insGG

1 paper

NM_198834.3

p.L6R

c.17T>G

2 papers

NM_198834.3

p.L6L

c.18G>T

1 paper

NM_198834.3

p.T5S

c.14C>G

1 paper

NM_198834.3

p.T5N

c.14C>A

1 paper

NM_198834.3

p.T5A

c.13A>G

1 paper

NM_198834.3

p.T5_L6insAA

c.13_17ins6

1 paper

NM_198834.3

p.M7I

c.21G>A

1 paper

NM_198834.3

p.S4C

c.11C>G

2 papers

NM_198834.3

p.S4P

c.10T>C

2 papers

NM_198834.3

p.W3*

c.9G>A