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.T465I

c.1394C>T

Surrounding Variants

1 paper

NM_020166.5

p.T465N

c.1394C>A

11 papers

NM_020166.5

p.H464P

c.1391A>C

2 papers

NM_020166.5

p.I467F

c.1399A>T

2 papers

NM_020166.5

p.V461fs

c.1381_1382fs

4 papers

NM_020166.5

p.I460M

c.1380T>G

1 paper

NM_020166.5

p.G475S

c.1423G>A

1 paper

NM_020166.5

p.A481S

c.1441G>T

2 papers

NM_020166.5

p.V484M

c.1450G>A

1 paper

NM_020166.5

p.H485fs

c.1453_1454fs

1 paper

NM_020166.5

p.D487N

c.1459G>A

1 paper

NM_020166.5

p.H492Y

c.1474C>T

1 paper

NM_020166.5

p.L496F

c.1488G>C