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

1–12 of 131 variants

9 papers

NM_001101662.2

p.E154_D155del1

c.462_464delTCT

5 papers

NM_001101662.2

p.R22_E23del2

c.64_68del6

5 papers

NM_001101662.2

p.G52delFs

c.154_155delCC

5 papers

NM_001101662.2

p.E154_D155del2

c.460_464del6

5 papers

NM_001101662.2

p.S462_L464del3

c.1384_1391del9

4 papers

NM_001101662.2

p.A8delFs

c.22_23delGC

4 papers

NM_001101662.2

p.R22_E23del1

c.66_68delTCC

4 papers

NM_001101662.2

p.Q66_N68del3

c.196_203del9

3 papers

NM_001101662.2

p.E154D

c.462A>T

3 papers

NM_001101662.2

p.E154D

c.462A>C

2 papers

NM_001101662.2

p.L244W

c.731T>G

2 papers

NM_001101662.2

p.R540*

c.1618A>T