Varaico: Literature-Extracted Genetic Variants

Gene:CNDP2
Variant:p.K91N

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
Selected Variant
1 paper
NM_018235.3
p.K91N
c.273G>C
Surrounding Variants
1 paper
NM_018235.3
p.G98R
c.292G>A
1 paper
NM_018235.3
p.G98R
c.292G>C
1 paper
NM_018235.3
p.A105A
c.315A>G
1 paper
NM_018235.3
p.S73S
c.219G>A
1 paper
NM_018235.3
p.D71N
c.211G>A
1 paper
NM_018235.3
p.E120K
c.358G>A
7 papers
NM_018235.3
p.Y126H
c.376T>C
1 paper
NM_018235.3
p.K134fs
c.400_401fs
1 paper
NM_018235.3
p.V137M
c.409G>A
1 paper
NM_018235.3
p.W140*
c.419G>A
1 paper
NM_018235.3
p.W140*
c.420G>A
1 paper
NM_018235.3
p.A48A
c.144T>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."