Varaico: Literature-Extracted Genetic Variants

Gene:CNDP2
Variant:p.S235_A239delFs

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.S235_A239delFs
c.703_716del14
Surrounding Variants
1 paper
NM_018235.3
p.S235_V236insFs
c.705_706insA
2 papers
NM_018235.3
p.S229Y
c.686C>A
1 paper
NM_018235.3
p.V220A
c.659T>C
1 paper
NM_018235.3
p.E219_V220Splc
c.658-7C>T
1 paper
NM_018235.3
p.I262I
c.786T>C
1 paper
NM_018235.3
p.E264A
c.791A>C
1 paper
NM_018235.3
p.A267delFs
c.801delC
1 paper
NM_018235.3
p.I280I
c.840C>T
1 paper
NM_018235.3
p.K289N
c.867G>C
1 paper
NM_018235.3
p.K289N
c.867G>T
1 paper
NM_018235.3
p.A293_L297delFs
c.878_890del13
1 paper
NM_018235.3
p.L296F
c.886C>T
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