Varaico: Literature-Extracted Genetic Variants

Gene:CNDP2
Variant:p.Y126H

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
7 papers
NM_018235.3
p.Y126H
c.376T>C
Surrounding Variants
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.N157N
c.471C>T
1 paper
NM_018235.3
p.E166A
c.497A>C
1 paper
NM_018235.3
p.E167Q
c.499G>C
1 paper
NM_018235.3
p.E167G
c.500A>G
1 paper
NM_018235.3
p.G169D
c.506G>A
1 paper
NM_018235.3
p.S170del1
c.508_510delTCT
1 paper
NM_018235.3
p.L173I
c.517C>A
1 paper
NM_018235.3
p.E175K
c.523G>A
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