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.A268D

c.803C>A

Surrounding Variants

1 paper

NM_020166.5

p.L271F

c.813G>T

1 paper

NM_020166.5

p.L271F

c.813G>C

1 paper

NM_020166.5

p.H264N

c.790C>A

1 paper

NM_020166.5

p.D263H

c.787G>C

1 paper

NM_020166.5

p.D275N

c.823G>A

1 paper

NM_020166.5

p.C276R

c.826T>C

9 papers

NM_020166.5

p.R281*

c.841C>T

1 paper

NM_020166.5

p.R281R

c.841C>A

3 papers

NM_020166.5

p.R281Q

c.842G>A

1 paper

NM_020166.5

p.H255P

c.764A>C

1 paper

NM_020166.5

p.H255Y

c.763C>T

2 papers

NM_020166.5

p.R254Splc

c.762-1G>A