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.T525A

c.1573A>G

Surrounding Variants

1 paper

NM_020166.5

p.D524H

c.1570G>C

1 paper

NM_020166.5

p.K520T

c.1559A>C

6 papers

NM_020166.5

p.D532H

c.1594G>C

1 paper

NM_020166.5

p.D532Splc

c.1594+1G>A

1 paper

NM_020166.5

p.L517_K518insT

c.1549_1553ins3

2 papers

NM_020166.5

p.D532Splc

c.1594+3A>G

2 papers

NM_020166.5

p.L508_L515delFs

c.1522_1544del23

2 papers

NM_020166.5

p.L515fs

c.1543_1544fs

2 papers

NM_020166.5

p.G514insFs

c.1541dupG

1 paper

NM_020166.5

p.A512G

c.1535C>G

1 paper

NM_020166.5

p.Q510fs

c.1528_1529fs

1 paper

NM_020166.5

p.Q510*

c.1528C>T