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.M203T

c.608T>C

Surrounding Variants

1 paper

NM_020166.5

p.M203I

c.609G>A

1 paper

NM_020166.5

p.P201S

c.601C>T

2 papers

NM_020166.5

p.A206V

c.617C>T

1 paper

NM_020166.5

p.Y200insFs

c.598dupT

1 paper

NM_020166.5

p.H194_Y200Fs

c.581_598delinsTTTAFs

1 paper

NM_020166.5

p.G209S

c.625G>A

1 paper

NM_020166.5

p.G209V

c.626G>T

1 paper

NM_020166.5

p.R197T

c.590G>C

1 paper

NM_020166.5

p.H194fs

c.580_581fs

19 papers

NM_020166.5

p.K213_G214Splc

c.639+2T>A

1 paper

NM_020166.5

p.L191P

c.572T>C

5 papers

NM_020166.5

p.K213_G214Splc

c.639+5G>T