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.E181E

c.543A>G

Surrounding Variants

1 paper

NM_001101662.2

p.D183H

c.547G>C

1 paper

NM_001101662.2

p.D159_E170del12

c.475_509del36

1 paper

NM_001101662.2

p.E170D

c.510G>T

1 paper

NM_001101662.2

p.E170D

c.510G>C

1 paper

NM_001101662.2

p.D159_E170del0

c.477_509del33

1 paper

NM_001101662.2

p.E197Q

c.589G>C

1 paper

NM_001101662.2

p.E201Q

c.601G>C

1 paper

NM_001101662.2

p.D157_E158del2

c.469_473del6

1 paper

NM_001101662.2

p.D157_E158del1

c.471_473delTCA

1 paper

NM_001101662.2

p.E158A

c.473A>C

5 papers

NM_001101662.2

p.E154_D155del2

c.460_464del6

1 paper

NM_001101662.2

p.D155E

c.465T>G