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

7 papers

NM_020166.5

p.D532H

c.1594G>C

Surrounding Variants

7 papers

NM_020166.5

p.S535F

c.1604C>T

1 paper

NM_020166.5

p.F537I

c.1609T>A

1 paper

NM_020166.5

p.S538S

c.1614G>T

2 papers

NM_020166.5

p.R544fs

c.1630_1631fs

3 papers

NM_020166.5

p.R544delFs

c.1630delT

1 paper

NM_020166.5

p.S548L

c.1643C>T

1 paper

NM_001293273.2

p.Y432C

c.1295A>G

1 paper

NM_020166.5

p.G558D

c.1673G>A

3 papers

NM_020166.5

p.N560fs

c.1678_1679fs

2 papers

NM_020166.5

p.N560fs

c.1678_1679fs

6 papers

NM_020166.5

p.N560_N561insFs

c.1680_1681insA

2 papers

NM_020166.5

p.N561Splc

c.1681+5G>A