Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R514ins1

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
12 papers
NM_000532.5
p.R514ins1
c.1540_1541insCCC
Surrounding Variants
4 papers
NM_000532.5
p.R512H
c.1535G>A
31 papers
NM_000532.5
p.R512C
c.1534C>T
13 papers
NM_000532.5
p.R514*
c.1540C>T
1 paper
NM_000532.5
p.T511insFs
c.1531dupA
2 papers
NM_000532.5
p.S510del1
c.1528_1529delTCC
1 paper
NM_000532.5
p.D518_V521del4
c.1552_1562del12
1 paper
NM_000532.5
p.L519V
c.1555C>G
3 papers
NM_000532.5
p.Q507*
c.1519C>T
1 paper
NM_000532.5
p.L519L
c.1555C>T
15 papers
NM_000532.5
p.L519P
c.1556T>C
1 paper
NM_000532.5
p.I505N
c.1514T>A
1 paper
NM_000532.5
p.I505T
c.1514T>C
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