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

1 paper

NM_020166.5

p.G352V

c.1055G>T

Surrounding Variants

1 paper

NM_020166.5

p.G352E

c.1055G>A

2 papers

NM_020166.5

p.G352R

c.1054G>C

2 papers

NM_020166.5

p.G352R

c.1054G>A

2 papers

NM_020166.5

p.M349I

c.1047G>T

2 papers

NM_020166.5

p.M349I

c.1047G>C

2 papers

NM_020166.5

p.M349I

c.1047G>A

1 paper

NM_020166.5

p.L355F

c.1065G>T

1 paper

NM_020166.5

p.L355F

c.1065G>C

1 paper

NM_020166.5

p.H344_T347del4

c.1030_1040del12

1 paper

NM_020166.5

p.W358fs

c.1072_1073fs

1 paper

NM_020166.5

p.W358delFs

c.1074delC

1 paper

NM_020166.5

p.H344R

c.1031A>G