Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.N536D

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
RefSeq ID
Protein change
DNA change
Selected Variant
39 papers
NM_000532.5
p.N536D
c.1606A>G
Surrounding Variants
3 papers
NM_000532.5
p.H534R
c.1601A>G
1 paper
NM_000532.5
p.H534Y
c.1600C>T
16 papers
NM_000532.5
p.W531*
c.1593G>A
15 papers
NM_000532.5
p.W531*
c.1592G>A
15 papers
NM_000532.5
p.L519P
c.1556T>C
1 paper
NM_000532.5
p.L519V
c.1555C>G
1 paper
NM_000532.5
p.L519L
c.1555C>T
1 paper
NM_000532.5
p.D518_V521del4
c.1552_1562del12
13 papers
NM_000532.5
p.R514*
c.1540C>T
12 papers
NM_000532.5
p.R514ins1
c.1540_1541insCCC
4 papers
NM_000532.5
p.R512H
c.1535G>A
31 papers
NM_000532.5
p.R512C
c.1534C>T
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