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.L106S

c.317T>C

Surrounding Variants

1 paper

NM_031483.7

p.K107_S108del2

c.319_323del6

1 paper

NM_031483.7

p.A99E

c.296C>A

1 paper

NM_031483.7

p.L113Splc

c.337+2T>C

1 paper

NM_031483.7

p.A98T

c.292G>A

1 paper

NM_031483.7

p.S85R

c.255T>A

1 paper

NM_031483.7

p.R82H

c.245G>A

1 paper

NM_031483.7

p.R82C

c.244C>T

1 paper

NM_031483.7

p.V73D

c.218T>A

1 paper

NM_031483.7

p.T129A

c.385A>G

1 paper

NM_031483.7

p.T131fs

c.391_392fs

5 papers

NM_031483.7

p.I132insFs

c.394dupA

1 paper

NM_031483.7

p.I137V

c.409A>G