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

8 papers

NM_020166.5

p.A291V

c.872C>T

Surrounding Variants

1 paper

NM_020166.5

p.A291A

c.873G>A

1 paper

NM_020166.5

p.A291_P292Splc

c.873+1G>A

7 papers

NM_020166.5

p.A289V

c.866C>T

6 papers

NM_020166.5

p.E288G

c.863A>G

1 paper

NM_020166.5

p.K284_I285delFs

c.852_855del4

2 papers

NM_020166.5

p.H282R

c.845A>G

3 papers

NM_020166.5

p.R281Q

c.842G>A

9 papers

NM_020166.5

p.R281*

c.841C>T

1 paper

NM_020166.5

p.R281R

c.841C>A

1 paper

NM_020166.5

p.C276R

c.826T>C

1 paper

NM_020166.5

p.D275N

c.823G>A

1 paper

NM_020166.5

p.L271F

c.813G>T