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.D316N

c.946G>A

Surrounding Variants

1 paper

NM_032649.6

p.L315I

c.943C>A

1 paper

NM_032649.6

p.E305K

c.913G>A

1 paper

NM_032649.6

p.P301L

c.902C>T

1 paper

NM_032649.6

p.E298D

c.894A>C

1 paper

NM_032649.6

p.E298D

c.894A>T

1 paper

NM_032649.6

p.P293_D297delFs

c.878_890del13

2 papers

NM_032649.6

p.I290T

c.869T>C

1 paper

NM_032649.6

p.G288S

c.862G>A

1 paper

NM_032649.6

p.L283L

c.847C>T

1 paper

NM_032649.6

p.L341F

c.1021C>T

1 paper

NM_032649.6

p.Y344*

c.1032C>A

2 papers

NM_032649.6

p.D357G

c.1070A>G