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.T222A

c.664A>G

Surrounding Variants

1 paper

NM_031483.7

p.P221insFs

c.662_663insG

2 papers

NM_031483.7

p.P221del1

c.661_662delCCC

1 paper

NM_031483.7

p.R225K

c.674G>A

2 papers

NM_031483.7

p.P220_P221del1

c.660_662delACC

1 paper

NM_001257137.3

p.R258*

c.772C>T

1 paper

NM_001257137.3

p.S242delFs

c.726delA

1 paper

NM_031483.7

p.S201fs

c.601_602fs

1 paper

NM_031483.7

p.P200insFs

c.599dupC

1 paper

NM_031483.7

p.E184K

c.550G>A

2 papers

NM_031483.7

p.P183L

c.548C>T

1 paper

NM_031483.7

p.D182H

c.544G>C

1 paper

NM_031483.7

p.S180insFs

c.540dupA