Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R182*

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
2 papers
NM_020361.5
p.R182*
c.544C>T
Surrounding Variants
1 paper
NM_020361.5
p.R182Q
c.545G>A
1 paper
NM_020361.5
p.R184*
c.550C>T
1 paper
NM_020361.5
p.K186R
c.557A>G
1 paper
NM_020361.5
p.G194_I195delins
c.582_584delinsTGG
2 papers
NM_020361.5
p.H196R
c.587A>G
1 paper
NM_020361.5
p.A197T
c.589G>A
6 papers
NM_020361.5
p.Q207E
c.619C>G
1 paper
NM_020361.5
p.E212fs
c.634_635fs
1 paper
NM_020361.5
p.E212delFs
c.635_636delTT
6 papers
NM_020361.5
p.S173C
c.518C>G
1 paper
NM_020361.5
p.W148R
c.442T>C
1 paper
NM_020361.5
p.W148R
c.442T>A
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