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.S1064L

c.3191C>T

Surrounding Variants

1 paper

NM_001101662.2

p.K1073N

c.3219G>T

1 paper

NM_001101662.2

p.K1073N

c.3219G>C

1 paper

NM_001101662.2

p.S1108fs

c.3322_3323fs

1 paper

NM_001101662.2

p.S1108delFs

c.3322delA

1 paper

NM_001101662.2

p.V1112G

c.3335T>G

1 paper

NM_001101662.2

p.R1052H

c.3155G>A

1 paper

NM_001101662.2

p.E1042K

c.3124G>A

1 paper

NM_001101662.2

p.S1000F

c.2999C>T

1 paper

NM_001101662.2

p.I995T

c.2984T>C

1 paper

NM_001101662.2

p.G980R

c.2938G>C

1 paper

NM_001101662.2

p.G980R

c.2938G>A

1 paper

NM_001101662.2

p.T965S

c.2894C>G