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.A172T

c.514G>A

Surrounding Variants

1 paper

NM_032649.6

p.W173R

c.517T>A

1 paper

NM_032649.6

p.W173R

c.517T>C

1 paper

NM_032649.6

p.V170del1

c.508_510delGTC

1 paper

NM_032649.6

p.G168D

c.503G>A

1 paper

NM_032649.6

p.G162R

c.484G>A

1 paper

NM_032649.6

p.G162R

c.484G>C

1 paper

NM_032649.6

p.K157insFs

c.470_471insT

1 paper

NM_032649.6

p.G156Splc

c.467-122G>A

1 paper

NM_032649.6

p.G156R

c.466G>A

1 paper

NM_032649.6

p.G156R

c.466G>C

2 papers

NM_032649.6

p.D134D

c.402C>T

1 paper

NM_032649.6

p.T126T

c.378C>T