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

1–12 of 1037 variants

20 papers

NM_198834.3

p.A273A

c.819C>T

19 papers

NM_198834.3

p.S103N

c.308G>A

8 papers

NM_198834.3

p.R175H

c.524G>A

6 papers

NM_198834.3

p.R13Splc

c.39-1G>A

6 papers

NM_198834.3

p.A29S

c.85G>T

5 papers

NM_198834.3

p.E80K

c.238G>A

4 papers

NM_198834.3

p.W16_K17insFs

c.48_49insC

4 papers

NM_198834.3

p.G301Splc

c.901+42G>A

4 papers

NM_198834.3

p.Y1867Y

c.5601C>T

3 papers

NM_198834.3

p.M1V

c.1A>G

3 papers

NM_198834.3

p.W3*

c.8G>A

3 papers

NM_198834.3

p.R25G

c.73A>G