Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R36H

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
3 papers
NM_020361.5
p.R36H
c.107G>A
Surrounding Variants
2 papers
NM_020361.5
p.Y37H
c.109T>C
1 paper
NM_020361.5
p.W19fs
c.55_56fs
1 paper
NM_020361.5
p.C18delFs
c.54delG
1 paper
NM_020361.5
p.C18fs
c.52_53fs
2 papers
NM_020361.5
p.P16T
c.46C>A
1 paper
NM_020361.5
p.A11T
c.31G>A
1 paper
NM_020361.5
p.K6R
c.17A>G
1 paper
NM_020361.5
p.C3_G5del3
c.7_14del9
1 paper
NM_020361.5
p.M1_K2del2
c.1_5del6
1 paper
NM_020361.5
p.K2T
c.5A>C
1 paper
NM_020361.5
p.M1insFs
c.3dupG
1 paper
NM_020361.5
p.M1insFs
c.2dupT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."