Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R376L

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
6 papers
NM_000532.5
p.R376L
c.1127G>T
Surrounding Variants
2 papers
NM_000532.5
p.R376H
c.1127G>A
2 papers
NM_000532.5
p.F377insFs
c.1131dupT
5 papers
NM_000532.5
p.R376C
c.1126C>T
1 paper
NM_000532.5
p.V378fs
c.1132_1133fs
1 paper
NM_000532.5
p.R379_F380insA
c.1135_1139ins3
1 paper
NM_000532.5
p.F380L
c.1140C>G
2 papers
NM_000532.5
p.C381insFs
c.1142dupG
1 paper
NM_000532.5
p.C381fs
c.1141_1142fs
3 papers
NM_000532.5
p.C381Y
c.1142G>A
1 paper
NM_000532.5
p.D382E
c.1146T>A
1 paper
NM_000532.5
p.D382E
c.1146T>G
1 paper
NM_000532.5
p.A383V
c.1148C>T
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