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

1–12 of 158 variants

5 papers

NM_031483.7

p.I132insFs

c.394dupA

3 papers

NM_031483.7

p.D394_P395insA

c.1180_1184ins3

2 papers

NM_031483.7

p.S6*

c.17C>A

2 papers

NM_031483.7

p.N58I

c.173A>T

2 papers

NM_031483.7

p.S159Splc

c.475+3274A>G

2 papers

NM_031483.7

p.S159Splc

c.475+3276A>G

2 papers

NM_031483.7

p.S159Splc

c.475+3278T>C

2 papers

NM_031483.7

p.S159Splc

c.475+3280C>T

2 papers

NM_031483.7

p.S159Splc

c.475+3281G>A

2 papers

NM_031483.7

p.S159Splc

c.475+3286C>T

2 papers

NM_031483.7

p.S159Splc

c.475+3287G>A

2 papers

NM_031483.7

p.S159Splc

c.475+3299C>G