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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCCB

PCCB

330 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a...

Pfam Domains

Carboxyl_transaa 57–537UCSCCarboxyl transferase domain

Gene Aliases

HGNC Name

propionyl-CoA carboxylase subunit beta

HGNC Previous Name

propionyl Coenzyme A carboxylase, beta polypeptide

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 453 variants

43 papers

chr3:136327184 C>T

NM_000532.5

p.R410W

c.1228C>T

Carboxyl_trans

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=9, hom=0)71 overlapping SVs

39 papers

chr3:136330012 A>G

NM_000532.5

p.N536D

c.1606A>G

Carboxyl_trans

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=22, hom=0)71 overlapping SVs

32 papers

chr3:136327239 C>T

NM_000532.5

p.T428I

c.1283C>T

Carboxyl_trans

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)71 overlapping SVs

31 papers

chr3:136329940 C>T

NM_000532.5

p.R512C

c.1534C>T

Carboxyl_trans

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)71 overlapping SVs

23 papers

chr3:136262024 G>A

NM_000532.5

p.E168K

c.502G>A

Carboxyl_trans

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)72 overlapping SVs

19 papers

chr3:136293784 C>T

NM_000532.5

p.P228L

c.683C>T

Carboxyl_trans

Exome: 0.0% (AC=101, hom=0)Genome: 0.0% (AC=8, hom=0)71 overlapping SVs

17 papers

chr3:136262015 C>T

NM_000532.5

p.R165W

c.493C>T

Carboxyl_trans

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)72 overlapping SVs

17 papers

chr3:136326881 C>CT

NM_000532.5

p.F391insFs

c.1173dupT

Carboxyl_trans

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)71 overlapping SVs

16 papers

chr3:136256588 C>T

NM_000532.5

p.R113*

c.337C>T

Carboxyl_trans

Exome: 0.0% (AC=70, hom=0)Genome: 0.0% (AC=4, hom=0)71 overlapping SVs

16 papers

chr3:136298022 G>GC

NM_000532.5

p.L280insFs

c.838dupC

Carboxyl_trans

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)71 overlapping SVs

16 papers

chr3:136327638 A>G

NM_000532.5

p.Y435C

c.1304A>G

Carboxyl_trans

Exome: 0.0% (AC=129, hom=0)Genome: 0.0% (AC=8, hom=0)71 overlapping SVs

16 papers

chr3:136328849 C>T

NM_000532.5

p.A497V

c.1490C>T

Carboxyl_trans

Exome: 0.2% (AC=2480, hom=4)Genome: 0.2% (AC=245, hom=2)71 overlapping SVs

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