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

1–12 of 80 variants

9 papers

NM_032649.6

p.L20ins0

c.58_60dupCTG

4 papers

NM_032649.6

p.D43_L44insTGC

c.127_131ins9

3 papers

NM_032649.6

p.H270N

c.808C>A

2 papers

NM_032649.6

p.L16_L17insFs

c.48_49ins5

2 papers

NM_032649.6

p.L20del1

c.58_59delCTG

2 papers

NM_032649.6

p.L17fs

c.49_50fs

2 papers

NM_032649.6

p.E48_F49ins5

c.142_146ins15

2 papers

NM_032649.6

p.D134D

c.402C>T

2 papers

NM_032649.6

p.I290T

c.869T>C

2 papers

NM_032649.6

p.D357G

c.1070A>G

1 paper

NM_032649.6

p.G6R

c.16G>A

1 paper

NM_032649.6

p.G6R

c.16G>C