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.T137R

c.410C>G

Surrounding Variants

1 paper

NM_001101662.2

p.T137A

c.409A>G

1 paper

NM_001101662.2

p.G135G

c.405T>G

1 paper

NM_001101662.2

p.D143N

c.427G>A

1 paper

NM_001101662.2

p.V149E

c.446T>A

1 paper

NM_001101662.2

p.E151fs

c.451_452fs

1 paper

NM_001101662.2

p.G121C

c.361G>T

3 papers

NM_001101662.2

p.E154D

c.462A>T

3 papers

NM_001101662.2

p.E154D

c.462A>C

1 paper

NM_001101662.2

p.Q119H

c.357G>T

1 paper

NM_001101662.2

p.Q119H

c.357G>C

1 paper

NM_001101662.2

p.D155E

c.465T>G

1 paper

NM_001101662.2

p.D155E

c.465T>A