Varaico: Literature-Extracted Genetic Variants

MCCC1

193 papers

RefSeq Summary

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. ...

Pfam Domains

Biotin_carb_Naa 1–48UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 54–262UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 274–382UCSCBiotin carboxylase C-terminal domain

Biotin_lipoylaa 541–605UCSCBiotin-requiring enzyme

Gene Aliases

HGNC Name

methylcrotonyl-CoA carboxylase subunit 1

HGNC Alias Symbols

MCCA; MCCCα

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_020166.5

p.S187P

c.559T>C

Surrounding Variants

5 papers

NM_020166.5

p.Q186delFs

c.558delT

1 paper

NM_020166.5

p.D185_S187Fs

c.554_559delinsTGTGFs

1 paper

NM_020166.5

p.Q186K

c.556C>A

3 papers

NM_020166.5

p.Q186fs

c.556_557fs

1 paper

NM_020166.5

p.E184K

c.550G>A

1 paper

NM_020166.5

p.C190Y

c.569G>A

1 paper

NM_020166.5

p.L191P

c.572T>C

3 papers

NM_020166.5

p.G180V

c.539G>T

1 paper

NM_020166.5

p.H194fs

c.580_581fs

1 paper

NM_020166.5

p.V177G

c.530T>G

1 paper

NM_020166.5

p.R197T

c.590G>C

1 paper

NM_020166.5

p.P176S

c.526C>T