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.I338V

c.1012A>G

Surrounding Variants

1 paper

NM_004969.4

p.L337L

c.1011C>T

1 paper

NM_004969.4

p.L337F

c.1009C>T

2 papers

NM_004969.4

p.L334L

c.1002T>G

1 paper

NM_004969.4

p.Y325S

c.974A>C

1 paper

NM_004969.4

p.L322insFs

c.965_966insC

1 paper

NM_004969.4

p.Y314F

c.941A>T

1 paper

NM_004969.4

p.G354A

c.1061G>C

1 paper

NM_004969.4

p.G361S

c.1081G>A

1 paper

NM_004969.4

p.R368*

c.1102C>T

1 paper

NM_004969.4

p.I374S

c.1121T>G

1 paper

NM_004969.4

p.D378E

c.1134C>G

1 paper

NM_004969.4

p.D378E

c.1134C>A