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.K328T

c.983A>C

Surrounding Variants

6 papers

NM_020166.5

p.S327*

c.980C>G

6 papers

NM_020166.5

p.S327*

c.980C>A

9 papers

NM_020166.5

p.M325R

c.974T>G

1 paper

NM_020166.5

p.E322Q

c.964G>C

1 paper

NM_020166.5

p.E322K

c.964G>A

1 paper

NM_020166.5

p.E335V

c.1004A>T

1 paper

NM_020166.5

p.M336I

c.1008G>T

2 papers

NM_020166.5

p.M336I

c.1008G>C

1 paper

NM_020166.5

p.M336I

c.1008G>A

1 paper

NM_020166.5

p.G319E

c.956G>A

1 paper

NM_020166.5

p.G319Splc

c.956-1G>T

1 paper

NM_020166.5

p.E343Q

c.1027G>C