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

1–12 of 182 variants

12 papers

NM_004969.4

p.E111Q

c.331G>C

5 papers

NM_004969.4

p.N231S

c.692A>G

4 papers

NM_004969.4

p.A890V

c.2669C>T

3 papers

NM_004969.4

p.E111D

c.333A>T

3 papers

NM_004969.4

p.E111D

c.333A>C

3 papers

NM_004969.4

p.H112Q

c.336T>G

3 papers

NM_004969.4

p.H112Q

c.336T>A

3 papers

NM_004969.4

p.C171S

c.511T>A

3 papers

NM_004969.4

p.C171S

c.512G>C

3 papers

NM_004969.4

p.T225S

c.673A>T

3 papers

NM_004969.4

p.C590S

c.1768T>A

3 papers

NM_004969.4

p.C590S

c.1769G>C