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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPB1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 99 variants

6 papers

chr3:148857515 C>T

NM_001871.3

p.T347I

c.1040C>T

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a71 overlapping SVs

3 papers

chr3:148834542 C>T

NM_001871.3

p.H64H

c.192C>T

Propep_M14

Exome: 0.2% (AC=2277, hom=0)Genome: 0.1% (AC=151, hom=0)70 overlapping SVs

3 papers

chr3:148841864 C>A

NM_001871.3

p.D172E

c.516C>A

Peptidase_M14

Exome: 1.2% (AC=17807, hom=131)Genome: 0.9% (AC=1399, hom=9)72 overlapping SVs

3 papers

chr3:148841864 C>G

NM_001871.3

p.D172E

c.516C>G

Peptidase_M14

exact variant not in gnomAD72 overlapping SVs

3 papers

chr3:148844485 G>A

NM_001871.3

p.R195H

c.584G>A

Peptidase_M14

Exome: 1.0% (AC=14269, hom=107)Genome: 0.7% (AC=1119, hom=4)70 overlapping SVs

3 papers

chr3:148844497 G>A

NM_001871.3

p.R199H

c.596G>A

Peptidase_M14

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=11, hom=0)70 overlapping SVs

3 papers

chr3:148844523 G>A

NM_001871.3

p.D208N

c.622G>A

Peptidase_M14

Exome: 23.1% (AC=337317, hom=40055)Genome: 24.4% (AC=37036, hom=4630)70 overlapping SVs

3 papers

chr3:148844557 A>C

NM_001871.3

p.N219T

c.656A>C

Peptidase_M14

exact variant not in gnomAD70 overlapping SVs

2 papers

chr3:148834543 A>G

NM_001871.3

p.S65G

c.193A>G

Propep_M14

Exome: 0.4% (AC=6229, hom=17)Genome: 0.3% (AC=448, hom=0)70 overlapping SVs

2 papers

chr3:148841907 C>T

NM_001871.3

p.Q187*

c.559C>T

Peptidase_M14

Exome: 0.0% (AC=130, hom=0)Genome: 0.1% (AC=117, hom=0)72 overlapping SVs

2 papers

chr3:148844683 T>C

NM_001871.3

p.F232L

c.694T>C

Peptidase_M14

Exome: 0.5% (AC=7577, hom=111)Genome: 0.8% (AC=1273, hom=16)70 overlapping SVs

2 papers

chr3:148844685 T>A

NM_001871.3

p.F232L

c.696T>A

Peptidase_M14

exact variant not in gnomAD70 overlapping SVs

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