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

2 papers

NM_004969.4

p.L723P

c.2168T>C

Surrounding Variants

1 paper

NM_004969.4

p.L729fs

c.2185_2186fs

1 paper

NM_004969.4

p.D706Splc

c.2117-3C>T

1 paper

NM_004969.4

p.Q736_A737Splc

c.2208+99G>A

3 papers

NM_004969.4

p.C789S

c.2365T>A

3 papers

NM_004969.4

p.C789S

c.2366G>C

1 paper

NM_004969.4

p.Q800K

c.2398C>A

1 paper

NM_004969.4

p.D706Splc

c.2116+1G>A

1 paper

NM_004969.4

p.C812S

c.2434T>A

1 paper

NM_004969.4

p.C812S

c.2435G>C

1 paper

NM_004969.4

p.D698A

c.2093A>C

1 paper

NM_004969.4

p.C819S

c.2455T>A

1 paper

NM_004969.4

p.C819S

c.2456G>C