Varaico: Literature-Extracted Genetic Variants

Gene:CPB1
Variant:p.K229_S230Splc

CPB1

98 papers

RefSeq Summary

Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a hig...

Pfam Domains

Propep_M14aa 28–104UCSCCarboxypeptidase activation peptide
Peptidase_M14aa 125–404UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase B1

HGNC Previous Name

carboxypeptidase B1 (tissue)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001871.3
p.K229_S230Splc
c.687+1G>T
Surrounding Variants
1 paper
NM_001871.3
p.G222S
c.664G>A
3 papers
NM_001871.3
p.N219T
c.656A>C
1 paper
NM_001871.3
p.V214V
c.642C>A
1 paper
NM_001871.3
p.V214I
c.640G>A
3 papers
NM_001871.3
p.D208N
c.622G>A
1 paper
NM_001871.3
p.E200D
c.600G>C
1 paper
NM_001871.3
p.E200D
c.600G>T
1 paper
NM_001871.3
p.R199R
c.597T>G
3 papers
NM_001871.3
p.R199H
c.596G>A
1 paper
NM_001871.3
p.R231Q
c.692G>A
1 paper
NM_001871.3
p.R231_F232insFs
c.693_694insC
2 papers
NM_001871.3
p.F232L
c.694T>C
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