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.S454fs

c.1360_1361fs

Surrounding Variants

1 paper

NM_020166.5

p.L448_T449insFs

c.1344_1345insC

2 papers

NM_020166.5

p.A447S

c.1339G>T

1 paper

NM_020166.5

p.Q445R

c.1334A>G

1 paper

NM_020166.5

p.Q445P

c.1334A>C

2 papers

NM_020166.5

p.Q445*

c.1333C>T

1 paper

NM_020166.5

p.R444fs

c.1330_1331fs

12 papers

NM_020166.5

p.R444H

c.1331G>A

1 paper

NM_020166.5

p.R444C

c.1330C>T

1 paper

NM_020166.5

p.A441fs

c.1321_1322fs

2 papers

NM_020166.5

p.V439M

c.1315G>A

10 papers

NM_020166.5

p.L437P

c.1310T>C

1 paper

NM_020166.5

p.I434M

c.1302T>G