Varaico: Literature-Extracted Genetic Variants

ITCH

200 papers

RefSeq Summary

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thu...

Pfam Domains

C2aa 18–116UCSCC2 domain

WWaa 328–357UCSCWW domain

WWaa 360–389UCSCWW domain

WWaa 440–469UCSCWW domain

WWaa 480–509UCSCWW domain

HECTaa 598–903UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

itchy E3 ubiquitin protein ligase

HGNC Alias Symbol

AIP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031483.7

p.H298Q

c.894C>A

Surrounding Variants

1 paper

NM_031483.7

p.R300del1

c.898_899delCGA

1 paper

NM_031483.7

p.V295E

c.884T>A

1 paper

NM_031483.7

p.E292Q

c.874G>C

1 paper

NM_031483.7

p.E308_R315del0

c.922_945del24

1 paper

NM_031483.7

p.K309R

c.926A>G

1 paper

NM_031483.7

p.R315_P316insFs

c.945_946insC

1 paper

NM_031483.7

p.E317K

c.949G>A

1 paper

NM_031483.7

p.P318insFs

c.952_953insA

1 paper

NM_031483.7

p.V282I

c.844G>A

2 papers

NM_031483.7

p.P278T

c.832C>A

1 paper

NM_031483.7

p.P278A

c.832C>G

2 papers

NM_031483.7

p.G272*

c.814G>T