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

5 papers

NM_001101662.2

p.G52delFs

c.154_155delCC

Surrounding Variants

1 paper

NM_001101662.2

p.G52E

c.155G>A

1 paper

NM_001101662.2

p.P51delFs

c.151delG

1 paper

NM_001101662.2

p.R53delFs

c.157_158delCT

1 paper

NM_001101662.2

p.A49T

c.145G>A

1 paper

NM_001101662.2

p.R53_K57del0

c.159_170del12

1 paper

NM_001101662.2

p.P44L

c.131C>T

1 paper

NM_001101662.2

p.C62Y

c.185G>A

1 paper

NM_001101662.2

p.A41A

c.123T>A

1 paper

NM_001101662.2

p.D64H

c.190G>C

1 paper

NM_001101662.2

p.Q66E

c.196C>G

1 paper

NM_001101662.2

p.L27_D38del0

c.81_113del33

1 paper

NM_001101662.2

p.L27_D38del12

c.79_113del36