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

2 papers

NM_001101662.2

p.L244W

c.731T>G

Surrounding Variants

1 paper

NM_001101662.2

p.E249Q

c.745G>C

1 paper

NM_001101662.2

p.D253Y

c.757G>T

1 paper

NM_001101662.2

p.F276delFs

c.826delA

1 paper

NM_001101662.2

p.R289fs

c.865_866fs

1 paper

NM_001101662.2

p.R289delFs

c.865delT

1 paper

NM_001101662.2

p.Q210_S211Splc

c.631-2A>G

1 paper

NM_002525.3

p.L212S

c.635T>C

1 paper

NM_001101662.2

p.E201Q

c.601G>C

1 paper

NM_001101662.2

p.E197Q

c.589G>C

1 paper

NM_001101662.2

p.D183H

c.547G>C

1 paper

NM_001101662.2

p.E181E

c.543A>G

1 paper

NM_001101662.2

p.D159_E170del12

c.475_509del36