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.D175H

c.523G>C

Surrounding Variants

1 paper

NM_004969.4

p.C178S

c.532T>A

1 paper

NM_004969.4

p.C178S

c.533G>C

3 papers

NM_004969.4

p.C171S

c.512G>C

3 papers

NM_004969.4

p.C171S

c.511T>A

1 paper

NM_004969.4

p.E182Q

c.544G>C

1 paper

NM_004969.4

p.E189Q

c.565G>C

1 paper

NM_004969.4

p.W199*

c.596G>A

1 paper

NM_004969.4

p.W199*

c.597G>A

1 paper

NM_004969.4

p.P211L

c.632C>T

1 paper

NM_004969.4

p.K212N

c.636A>T

1 paper

NM_004969.4

p.K212N

c.636A>C

1 paper

NM_004969.4

p.S216R

c.646A>C