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.R540*

c.1618A>T

Surrounding Variants

1 paper

NM_001101662.2

p.R546W

c.1636C>T

1 paper

NM_002525.3

p.T568delFs

c.1702_1703delGT

2 papers

NM_001101662.2

p.M568fs

c.1702_1703fs

1 paper

NM_001101662.2

p.M568V

c.1702A>G

2 papers

NM_002525.3

p.M636delFs

c.1906_1907delAT

NM_001101662.2

p.M568delFs

c.1702_1703delAT

1 paper

NM_001101662.2

p.L577F

c.1731G>T

1 paper

NM_001101662.2

p.L577F

c.1731G>C

1 paper

NM_001101662.2

p.K480Splc

c.1439+1G>A

1 paper

NM_001101662.2

p.G471_I473del3

c.1411_1418del9

1 paper

NM_001101662.2

p.G471R

c.1411G>C

5 papers

NM_001101662.2

p.S462_L464del3

c.1384_1391del9

1 paper

NM_001101662.2

p.Q451_Y453del3

c.1351_1358del9