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.G267delFs

c.801delC

Surrounding Variants

3 papers

NM_032649.6

p.H270N

c.808C>A

1 paper

NM_032649.6

p.P272Q

c.815C>A

1 paper

NM_032649.6

p.G281Splc

c.841+1424A>G

1 paper

NM_032649.6

p.G242R

c.724G>A

1 paper

NM_032649.6

p.G242R

c.724G>C

1 paper

NM_032649.6

p.Y241Y

c.723C>T

1 paper

NM_032649.6

p.A238V

c.713C>T

1 paper

NM_032649.6

p.A238P

c.712G>C

1 paper

NM_032649.6

p.N229T

c.686A>C

1 paper

NM_032649.6

p.S227L

c.680C>T

1 paper

NM_032649.6

p.V225G

c.674T>G

1 paper

NM_032649.6

p.L209F

c.625C>T