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.T225I

c.674C>T

Surrounding Variants

3 papers

NM_004969.4

p.T225S

c.673A>T

5 papers

NM_004969.4

p.N231S

c.692A>G

1 paper

NM_004969.4

p.Y248C

c.743A>G

2 papers

NM_004969.4

p.M254T

c.761T>C

1 paper

NM_004969.4

p.C257S

c.769T>A

1 paper

NM_004969.4

p.C257S

c.770G>C

1 paper

NM_004969.4

p.G260S

c.778G>A

1 paper

NM_004969.4

p.R261Q

c.782G>A

1 paper

NM_004969.4

p.G221Splc

c.662-1697C>T

1 paper

NM_004969.4

p.G221Splc

c.662-3067G>T

1 paper

NM_004969.4

p.E287G

c.860A>G

1 paper

NM_004969.4

p.P289S

c.865C>T