Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.S381R

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.S381R
c.1143C>A
Surrounding Variants
1 paper
NM_020361.5
p.S381R
c.1143C>G
1 paper
NM_020361.5
p.S381R
c.1141A>C
3 papers
NM_020361.5
p.E398Q
c.1192G>C
1 paper
NM_020361.5
p.E398K
c.1192G>A
1 paper
NM_020361.5
p.R400H
c.1199G>A
1 paper
NM_020361.5
p.G403E
c.1208G>A
2 papers
NM_020361.5
p.L413F
c.1237C>T
1 paper
NM_020361.5
p.A424V
c.1271C>T
1 paper
NM_020361.5
p.L433R
c.1298T>G
1 paper
NM_020361.5
p.Y376Splc
c.1126+143G>C
1 paper
NM_020361.5
p.T374R
c.1121C>G
2 papers
NM_020361.5
p.R365Q
c.1094G>A
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."