Varaico: Literature-Extracted Genetic Variants

NRDC

102 papers

RefSeq Summary

This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein in...

Pfam Domains

Peptidase_M16aa 138–273UCSCInsulinase (Peptidase family M16)

Peptidase_M16_Caa 298–485UCSCPeptidase M16 inactive domain

Peptidase_M16_Maa 489–770UCSCMiddle or third domain of peptidase_M16

Peptidase_M16_Caa 774–957UCSCPeptidase M16 inactive domain

Gene Aliases

HGNC Name

nardilysin convertase

HGNC Previous Symbol

NRD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001101662.2

p.E368A

c.1103A>C

Surrounding Variants

1 paper

NM_001101662.2

p.E368D

c.1104A>T

1 paper

NM_001101662.2

p.E368D

c.1104A>C

1 paper

NM_001101662.2

p.F369_W370ins3

c.1107_1108ins9

1 paper

NM_001101662.2

p.G337G

c.1011A>C

1 paper

NM_001101662.2

p.K394N

c.1182G>T

1 paper

NM_001101662.2

p.K394N

c.1182G>C

1 paper

NM_001101662.2

p.K394K

c.1182G>A

1 paper

NM_001101662.2

p.I399M

c.1197C>G

1 paper

NM_001101662.2

p.G407A

c.1220G>C

1 paper

NM_001101662.2

p.H415L

c.1244A>T

1 paper

NM_001101662.2

p.T422K

c.1265C>A

1 paper

NM_001101662.2

p.L440L

c.1318C>T