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.T733M

c.2198C>T

Surrounding Variants

1 paper

NM_001101662.2

p.Q797E

c.2389C>G

1 paper

NM_001101662.2

p.K799K

c.2397G>A

1 paper

NM_001101662.2

p.P809P

c.2427C>T

1 paper

NM_001101662.2

p.E649K

c.1945G>A

1 paper

NM_001101662.2

p.I636delFs

c.1906_1907delAT

1 paper

NM_001101662.2

p.R817Q

c.2450G>A

1 paper

NM_001101662.2

p.F851L

c.2551T>C

1 paper

NM_001101662.2

p.F851L

c.2553C>G

1 paper

NM_001101662.2

p.F851L

c.2553C>A

1 paper

NM_001101662.2

p.L855H

c.2564T>A

1 paper

NM_001101662.2

p.L860M

c.2578C>A

1 paper

NM_001101662.2

p.L577F

c.1731G>T