Varaico: Literature-Extracted Genetic Variants

IDE

192 papers

RefSeq Summary

This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diver...

Pfam Domains

Peptidase_M16_Maa 1–148UCSCMiddle or third domain of peptidase_M16

Peptidase_M16aa 74–212UCSCInsulinase (Peptidase family M16)

Peptidase_M16_Caa 236–418UCSCPeptidase M16 inactive domain

Peptidase_M16_Maa 422–703UCSCMiddle or third domain of peptidase_M16

Peptidase_M16_Caa 706–889UCSCPeptidase M16 inactive domain

PqqF-like_C_4aa 810–908UCSCPQQ synthase PqqF-like, C-terminal lobe domain 4

Gene Aliases

HGNC Name

insulin degrading enzyme

HGNC Previous Name

insulin-degrading enzyme

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004969.4

p.Y628_L629Splc

c.1884+1543C>A

Surrounding Variants

1 paper

NM_004969.4

p.M627_Y628insFs

c.1881_1882insAC

2 papers

NM_004969.4

p.Y609F

c.1826A>T

2 papers

NM_004969.4

p.E606K

c.1816G>A

3 papers

NM_004969.4

p.C590S

c.1769G>C

3 papers

NM_004969.4

p.C590S

c.1768T>A

1 paper

NM_004969.4

p.P587L

c.1760C>T

1 paper

NM_004969.4

p.D586H

c.1756G>C

2 papers

NM_004969.4

p.P581A

c.1741C>G

1 paper

NM_004969.4

p.F673L

c.2019C>G

1 paper

NM_004969.4

p.R687C

c.2059C>T

1 paper

NM_004969.4

p.D698A

c.2093A>C

1 paper

NM_004969.4

p.D706Splc

c.2116+1G>A