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.F393L

c.1177T>C

Surrounding Variants

1 paper

NM_031483.7

p.F393L

c.1179T>A

1 paper

NM_031483.7

p.F393L

c.1179T>G

3 papers

NM_031483.7

p.D394_P395insA

c.1180_1184ins3

1 paper

NM_031483.7

p.Q389*

c.1165C>T

2 papers

NM_031483.7

p.Q360Q

c.1080G>A

1 paper

NM_031483.7

p.Q358Q

c.1074A>G

1 paper

NM_031483.7

p.S352insFs

c.1054dupT

1 paper

NM_031483.7

p.R341insFs

c.1022_1023insT

1 paper

NM_031483.7

p.H338insFs

c.1012_1013insT

1 paper

NM_031483.7

p.G331R

c.991G>A

1 paper

NM_031483.7

p.G331R

c.991G>C

1 paper

NM_031483.7

p.M330V

c.988A>G