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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA1

CPA1

133 papers

RefSeq Summary

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino ac...

Pfam Domains

Propep_M14aa 26–100UCSCCarboxypeptidase activation peptide

Peptidase_M14aa 128–406UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A1

HGNC Previous Name

carboxypeptidase A1 (pancreatic)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 283 variants

33 papers

chr7:130384607 C>A

NM_001868.4

p.N256K

c.768C>A

Peptidase_M14

exact variant not in gnomAD60 overlapping SVs

33 papers

chr7:130384607 C>G

NM_001868.4

p.N256K

c.768C>G

Peptidase_M14

Exome: n/aGenome: 0.0% (AC=1, hom=0)60 overlapping SVs

17 papers

chr7:130385202 T>C

NM_001868.4

p.S282P

c.844T>C

Peptidase_M14

exact variant not in gnomAD60 overlapping SVs

8 papers

chr7:130383720 G>A

NM_001868.4

p.A208T

c.622G>A

Peptidase_M14

Exome: 3.0% (AC=43310, hom=770)Genome: 2.2% (AC=3278, hom=62)60 overlapping SVs

8 papers

chr7:130384590 G>A

NM_001868.4

p.V251M

c.751G>A

Peptidase_M14

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=2, hom=0)60 overlapping SVs

7 papers

chr7:130381111 C>T

NM_001868.4

p.R27*

c.79C>T

Propep_M14

Exome: 0.0% (AC=705, hom=1)Genome: 0.0% (AC=54, hom=0)60 overlapping SVs

7 papers

chr7:130387871 A>G

NM_001868.4

p.K374E

c.1120A>G

Peptidase_M14

Exome: n/aGenome: 0.0% (AC=1, hom=0)59 overlapping SVs

7 papers

chr7:130387895 C>T

NM_001868.4

p.R382W

c.1144C>T

Peptidase_M14

Exome: 0.0% (AC=22, hom=0)Genome: n/a59 overlapping SVs

6 papers

chr7:130382136 C>G

NM_001868.4

p.A137G

c.410C>G

Peptidase_M14

Exome: 0.0% (AC=119, hom=1)Genome: 0.0% (AC=10, hom=0)59 overlapping SVs

6 papers

chr7:130383413 G>A

NM_001868.4

p.R169H

c.506G>A

Peptidase_M14

Exome: 0.0% (AC=194, hom=1)Genome: 0.0% (AC=18, hom=0)59 overlapping SVs

6 papers

chr7:130384576 CCCTCTGTATTGGCGTGGACCCCAA>C

NM_001868.4

p.S246_N254del0

c.738_761del24

Peptidase_M14

exact variant not in gnomAD60 overlapping SVs

5 papers

chr7:130383404 G>A

NM_001868.4

p.G166D

c.497G>A

Peptidase_M14

Exome: 0.3% (AC=4156, hom=10)Genome: 0.2% (AC=301, hom=0)59 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."