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.V398fs

c.1192_1193fs

Surrounding Variants

1 paper

NM_020166.5

p.V398fs

c.1192_1193fs

3 papers

NM_020166.5

p.V398delFs

c.1193_1194delCA

1 paper

NM_020166.5

p.A399A

c.1197A>T

1 paper

NM_020166.5

p.A388T

c.1162G>A

1 paper

NM_020166.5

p.P408S

c.1222C>T

1 paper

NM_020166.5

p.L405_T407delFs

c.1215_1219del5

1 paper

NM_020166.5

p.Y387H

c.1159T>C

2 papers

NM_020166.5

p.R409*

c.1225C>T

24 papers

NM_020166.5

p.R385S

c.1155A>T

29 papers

NM_020166.5

p.R385S

c.1155A>C

1 paper

NM_020166.5

p.E383D

c.1149A>T

1 paper

NM_020166.5

p.E383D

c.1149A>C