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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRCP

Variant:p.Y125C

PRCP

49 papers

RefSeq Summary

This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enz...

Pfam Domains

Peptidase_S28aa 1–372UCSCSerine carboxypeptidase S28

Peptidase_S28aa 55–477UCSCSerine carboxypeptidase S28

Gene Aliases

HGNC Name

prolylcarboxypeptidase

HGNC Alias Symbol

HUMPCP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:82853214 T>C

NM_005040.4

p.Y125C

c.374A>G

Peptidase_S28

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

Surrounding Variants

10 papers

chr11:82853252 T>A

NM_005040.4

p.E112D

c.336A>T

Peptidase_S28

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=6, hom=0)34 overlapping SVs

10 papers

chr11:82853252 T>G

NM_005040.4

p.E112D

c.336A>C

Peptidase_S28

Exome: 17.1% (AC=248760, hom=22104)Genome: 15.5% (AC=23537, hom=1894)34 overlapping SVs

1 paper

chr11:82853263 C>T

NM_005040.4

p.V109M

c.325G>A

Peptidase_S28

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

1 paper

chr11:82853270 C>A

NM_005040.4

p.M106I

c.318G>T

Peptidase_S28

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr11:82853270 C>G

NM_005040.4

p.M106I

c.318G>C

Peptidase_S28

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:82853270 C>T

NM_005040.4

p.M106I

c.318G>A

Peptidase_S28

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=10, hom=0)34 overlapping SVs

1 paper

chr11:82853275 A>T

NM_005040.4

p.F105I

c.313T>A

Peptidase_S28

Exome: 0.1% (AC=1815, hom=30)Genome: 0.1% (AC=109, hom=0)34 overlapping SVs

1 paper

chr11:82853277 C>T

NM_005040.4

p.G104E

c.311G>A

Peptidase_S28

Exome: 0.0% (AC=2, hom=0)Genome: n/a34 overlapping SVs

3 papers

chr11:82853278 C>G

NM_005040.4

p.G104R

c.310G>C

Peptidase_S28

exact variant not in gnomAD34 overlapping SVs

3 papers

chr11:82853278 C>T

NM_005040.4

p.G104R

c.310G>A

Peptidase_S28

Exome: 0.0% (AC=2, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:82850483 A>G

NM_005040.4

p.L145P

c.434T>C

Peptidase_S28

Exome: 0.0% (AC=0, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:82850432 T>C

NM_005040.4

p.K162R

c.485A>G

Peptidase_S28

exact variant not in gnomAD34 overlapping SVs

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