Varaico: Literature-Extracted Genetic Variants

Gene:CNDP1
Variant:p.G6R

CNDP1

96 papers

RefSeq Summary

This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This g...

Pfam Domains

Peptidase_M20aa 128–502UCSCPeptidase family M20/M25/M40
M20_dimeraa 241–402UCSCPeptidase dimerisation domain

Gene Aliases

HGNC Name

carnosine dipeptidase 1

HGNC Alias Symbols

MGC10825; CN1; CPGL2; HsT2308

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032649.6
p.G6R
c.16G>A
Surrounding Variants
1 paper
NM_032649.6
p.G6R
c.16G>C
1 paper
NM_032649.6
p.R7delFs
c.20delG
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."