Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.H140R

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.H140R
c.419A>G
Surrounding Variants
1 paper
NM_020361.5
p.Y134F
c.401A>T
1 paper
NM_020361.5
p.S132C
c.395C>G
1 paper
NM_020361.5
p.R128delFs
c.383delC
1 paper
NM_020361.5
p.R128*
c.382C>T
1 paper
NM_020361.5
p.R128fs
c.382_383fs
1 paper
NM_020361.5
p.S121C
c.361A>T
1 paper
NM_020361.5
p.W148R
c.442T>C
1 paper
NM_020361.5
p.W148R
c.442T>A
6 papers
NM_020361.5
p.S173C
c.518C>G
2 papers
NM_020361.5
p.R182*
c.544C>T
1 paper
NM_020361.5
p.R182Q
c.545G>A
1 paper
NM_020361.5
p.R184*
c.550C>T
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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."