Varaico: Literature-Extracted Genetic Variants

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.L53_K54insGCC

c.157_161ins9

Surrounding Variants

1 paper

NM_032649.6

p.A58_E60del3

c.172_179del9

1 paper

NM_032649.6

p.E60_S61insCTG

c.178_182ins9

1 paper

NM_032649.6

p.V64I

c.190G>A

1 paper

NM_032649.6

p.G98D

c.293G>A

1 paper

NM_032649.6

p.V113I

c.337G>A

1 paper

NM_032649.6

p.L115P

c.344T>C

1 paper

NM_032649.6

p.A116A

c.348C>T

1 paper

NM_032649.6

p.T123R

c.368C>G

1 paper

NM_032649.6

p.T126T

c.378C>T

2 papers

NM_032649.6

p.D134D

c.402C>T

1 paper

NM_032649.6

p.G156R

c.466G>A

1 paper

NM_032649.6

p.G156R

c.466G>C