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.E229K

c.685G>A

Surrounding Variants

1 paper

NM_001293273.2

p.E112G

c.335A>G

1 paper

NM_020166.5

p.E226K

c.676G>A

4 papers

NM_020166.5

p.R232W

c.694C>T

1 paper

NM_020166.5

p.R232P

c.695G>C

1 paper

NM_020166.5

p.Q222_E223delFs

c.664_668del5

1 paper

NM_020166.5

p.A235fs

c.703_704fs

1 paper

NM_020166.5

p.Q222*

c.664C>T

1 paper

NM_020166.5

p.S220_E221delFs

c.658_662del5

1 paper

NM_020166.5

p.R219_S220insFs

c.657_658insAT

1 paper

NM_020166.5

p.A235_K237delFs

c.704_711del8

1 paper

NM_020166.5

p.S220fs

c.658_659fs

1 paper

NM_020166.5

p.R219Fs

c.655_657delinsGAAATFs