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.M556V

c.1666A>G

Surrounding Variants

1 paper

NM_004969.4

p.L569fs

c.1705_1706fs

1 paper

NM_004969.4

p.K571T

c.1712A>C

1 paper

NM_004969.4

p.C573S

c.1717T>A

1 paper

NM_004969.4

p.C573S

c.1718G>C

1 paper

NM_004969.4

p.N575T

c.1724A>C

1 paper

NM_004969.4

p.A544V

c.1631C>T

1 paper

NM_004969.4

p.P539P

c.1617G>T

2 papers

NM_004969.4

p.P581A

c.1741C>G

1 paper

NM_004969.4

p.D586H

c.1756G>C

1 paper

NM_004969.4

p.T533R

c.1598C>G

1 paper

NM_004969.4

p.P587L

c.1760C>T

3 papers

NM_004969.4

p.C590S

c.1768T>A