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

2 papers

NM_032649.6

p.L16_L17insFs

c.48_49ins5

Surrounding Variants

9 papers

NM_032649.6

p.L20ins0

c.58_60dupCTG

2 papers

NM_032649.6

p.L20del1

c.58_59delCTG

1 paper

NM_032649.6

p.L12L

c.34C>T

2 papers

NM_032649.6

p.L17fs

c.49_50fs

1 paper

NM_032649.6

p.L18ins1

c.53_54insGCC

1 paper

NM_032649.6

p.M24K

c.71T>A

1 paper

NM_032649.6

p.P32L

c.95C>T

4 papers

NM_032649.6

p.D43_L44insTGC

c.127_131ins9

2 papers

NM_032649.6

p.E48_F49ins5

c.142_146ins15

1 paper

NM_032649.6

p.L53_K54insGCC

c.157_161ins9

1 paper

NM_032649.6

p.A58_E60del3

c.172_179del9

1 paper

NM_032649.6

p.E60_S61insCTG

c.178_182ins9