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.S6L

c.17C>T

Surrounding Variants

2 papers

NM_031483.7

p.S6*

c.17C>A

1 paper

NM_031483.7

p.Q7fs

c.19_20fs

1 paper

NM_031483.7

p.Q7delFs

c.20delA

1 paper

NM_031483.7

p.M1I

c.3G>A

1 paper

NM_031483.7

p.M1K

c.2T>A

1 paper

NM_031483.7

p.M1T

c.2T>C

1 paper

NM_031483.7

p.M1insFs

c.2dupT

1 paper

NM_031483.7

p.M16K

c.47T>A

1 paper

NM_031483.7

p.K17E

c.49A>G