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.E40V

c.119A>T

Surrounding Variants

3 papers

NM_198834.3

p.E40K

c.118G>A

1 paper

NM_198834.3

p.E40E

c.120A>G

2 papers

NM_198834.3

p.P41S

c.121C>T

1 paper

NM_198834.3

p.P41L

c.122C>T

1 paper

NM_198834.3

p.M38del1

c.112_113delCAT

1 paper

NM_198834.3

p.P41P

c.123A>C

1 paper

NM_198834.3

p.S42_P43ins5

c.124_128ins15

1 paper

NM_198834.3

p.S42A

c.124T>G

1 paper

NM_198834.3

p.M38K

c.113T>A

1 paper

NM_198834.3

p.S42F

c.125C>T

1 paper

NM_198834.3

p.P41_S42insFs

c.123_124ins5

1 paper

NM_198834.3

p.M38_S42delFs

c.112_124del13