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.Y433S

c.1298A>C

Surrounding Variants

1 paper

NM_004969.4

p.G432R

c.1294G>C

1 paper

NM_001322795.2

p.S394delFs

c.1180_1181delGA

1 paper

NM_004969.4

p.R429S

c.1287G>T

1 paper

NM_004969.4

p.R429S

c.1287G>C

1 paper

NM_004969.4

p.D426A

c.1277A>C

1 paper

NM_004969.4

p.C414S

c.1241G>C

1 paper

NM_004969.4

p.C414S

c.1240T>A

1 paper

NM_004969.4

p.E413D

c.1239G>C

1 paper

NM_004969.4

p.M394fs

c.1180_1181fs

2 papers

NM_004969.4

p.M394delFs

c.1180_1181delAT

1 paper

NM_004969.4

p.L471F

c.1411C>T

1 paper

NM_004969.4

p.D378E

c.1134C>G