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.D251H

c.751G>C

Surrounding Variants

1 paper

NM_020166.5

p.R254Splc

c.761+1G>T

1 paper

NM_020166.5

p.A243_M244insFs

c.729_730insTT

1 paper

NM_020166.5

p.D242del1

c.724_725delATC

1 paper

NM_020166.5

p.D242N

c.724G>A

1 paper

NM_020166.5

p.F239L

c.717C>G

1 paper

NM_020166.5

p.F239L

c.717C>A

1 paper

NM_020166.5

p.F239L

c.715T>C

1 paper

NM_020166.5

p.A235_K237delFs

c.704_711del8

1 paper

NM_020166.5

p.A235fs

c.703_704fs

1 paper

NM_020166.5

p.R232P

c.695G>C

4 papers

NM_020166.5

p.R232W

c.694C>T

1 paper

NM_001293273.2

p.E112G

c.335A>G