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

3 papers

NM_004969.4

p.H112Q

c.336T>G

Surrounding Variants

3 papers

NM_004969.4

p.H112Q

c.336T>A

1 paper

NM_004969.4

p.H112L

c.335A>T

1 paper

NM_004969.4

p.H112R

c.335A>G

1 paper

NM_004969.4

p.H112D

c.334C>G

3 papers

NM_004969.4

p.E111D

c.333A>T

3 papers

NM_004969.4

p.E111D

c.333A>C

2 papers

NM_004969.4

p.E111V

c.332A>T

1 paper

NM_004969.4

p.E111A

c.332A>C

12 papers

NM_004969.4

p.E111Q

c.331G>C

2 papers

NM_004969.4

p.C110S

c.329G>C

1 paper

NM_004969.4

p.C110G

c.328T>G

2 papers

NM_004969.4

p.C110S

c.328T>A