Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R410W

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
43 papers
NM_000532.5
p.R410W
c.1228C>T
Surrounding Variants
6 papers
NM_000532.5
p.R410Q
c.1229G>A
NM_001178014.2
p.R430Q
c.1289G>A
1 paper
NM_000532.5
p.I409_R410del1
c.1226_1228delTCC
1 paper
NM_000532.5
p.I408delFs
c.1223delT
1 paper
NM_000532.5
p.G412S
c.1234G>A
1 paper
NM_000532.5
p.G407V
c.1220G>T
3 papers
NM_000532.5
p.I408del1
c.1222_1223delATC
6 papers
NM_000532.5
p.G407fs
c.1219_1220fs
9 papers
NM_000532.5
p.G407fs
c.1219_1220fs
1 paper
NM_000532.5
p.G407_H411delFs
c.1219_1231del13
1 paper
NM_001178014.2
p.G426_H431Fs
c.1278_1291delinsTAGAGCACAGFs
5 papers
NM_000532.5
p.G406_H411Fs
c.1218_1231delinsTAGAGCACAGGAFs
1 paper
NM_000532.5
p.G406insFs
c.1217_1218insTA
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