Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.P342A

CPA6

82 papers

RefSeq Summary

The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of ...

Pfam Domains

Propep_M14aa 43–119UCSCCarboxypeptidase activation peptide
Peptidase_M14aa 145–424UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A6

HGNC Alias Symbol

CPAH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020361.5
p.P342A
c.1024C>G
Surrounding Variants
1 paper
NM_020361.5
p.C346R
c.1036T>C
1 paper
NM_020361.5
p.S335Y
c.1004C>A
1 paper
NM_020361.5
p.A325S
c.973G>T
1 paper
NM_020361.5
p.A325T
c.973G>A
2 papers
NM_020361.5
p.R311Q
c.932G>A
3 papers
NM_020361.5
p.R311*
c.931C>T
1 paper
NM_020361.5
p.A307T
c.919G>A
1 paper
NM_020361.5
p.V306I
c.916G>A
1 paper
NM_020361.5
p.T291A
c.871A>G
1 paper
NM_020361.5
p.G363R
c.1087G>C
1 paper
NM_020361.5
p.G363R
c.1087G>A
2 papers
NM_020361.5
p.R365Q
c.1094G>A
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