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.V218G

c.653T>G

Surrounding Variants

1 paper

NM_020166.5

p.R219fs

c.655_656fs

1 paper

NM_020166.5

p.R219Fs

c.655_657delinsGAAATFs

1 paper

NM_020166.5

p.S220fs

c.658_659fs

1 paper

NM_020166.5

p.R219_S220insFs

c.657_658insAT

1 paper

NM_020166.5

p.S220_E221delFs

c.658_662del5

1 paper

NM_020166.5

p.Q222*

c.664C>T

1 paper

NM_020166.5

p.G214delFs

c.640_641delCC

1 paper

NM_020166.5

p.G214E

c.641G>A

1 paper

NM_020166.5

p.G214fs

c.640_641fs

1 paper

NM_020166.5

p.K213_G214Splc

c.640-2A>G

1 paper

NM_020166.5

p.Q222_E223delFs

c.664_668del5

1 paper

NM_020166.5

p.E226K

c.676G>A