Varaico: Literature-Extracted Genetic Variants

Gene:CNDP2

CNDP2

84 papers

RefSeq Summary

CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar ...

Pfam Domains

Peptidase_M20aa 95–469UCSCPeptidase family M20/M25/M40
M20_dimeraa 208–369UCSCPeptidase dimerisation domain

Gene Aliases

HGNC Name

carnosine dipeptidase 2

HGNC Previous Symbol

PEPA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
7 papers
NM_018235.3
p.Y126H
c.376T>C
2 papers
NM_018235.3
p.S229Y
c.686C>A
1 paper
NM_018235.3
p.M1Fs
c.2delinsTGFs
1 paper
NM_018235.3
p.Y10S
c.29A>C
1 paper
NM_018235.3
p.A23T
c.67G>A
1 paper
NM_018235.3
p.V26M
c.76G>A
1 paper
NM_018235.3
p.R42S
c.126G>C
1 paper
NM_018235.3
p.E46K
c.136G>A
1 paper
NM_018235.3
p.V47I
c.139G>A
1 paper
NM_018235.3
p.A48A
c.144T>A
1 paper
NM_018235.3
p.D71N
c.211G>A
1 paper
NM_018235.3
p.S73S
c.219G>A
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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."