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

1–12 of 366 variants

29 papers

NM_020166.5

p.R385S

c.1155A>C

24 papers

NM_020166.5

p.R385S

c.1155A>T

19 papers

NM_020166.5

p.K213_G214Splc

c.639+2T>A

12 papers

NM_020166.5

p.R444H

c.1331G>A

11 papers

NM_020166.5

p.H464P

c.1391A>C

10 papers

NM_020166.5

p.L437P

c.1310T>C

9 papers

NM_020166.5

p.R281*

c.841C>T

9 papers

NM_020166.5

p.M325R

c.974T>G

8 papers

NM_020166.5

p.A291V

c.872C>T

8 papers

NM_020166.5

p.C509delFs

c.1526delC

7 papers

NM_020166.5

p.A289V

c.866C>T

7 papers

NM_020166.5

p.D532H

c.1594G>C