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

2 papers

NM_031483.7

p.N58I

c.173A>T

Surrounding Variants

1 paper

NM_031483.7

p.K64E

c.190A>G

1 paper

NM_031483.7

p.V45F

c.133G>T

1 paper

NM_031483.7

p.V43I

c.127G>A

1 paper

NM_031483.7

p.W36delFs

c.107_108delGG

1 paper

NM_031483.7

p.N35S

c.104A>G

1 paper

NM_031483.7

p.K34R

c.101A>G

1 paper

NM_031483.7

p.K34M

c.101A>T

1 paper

NM_031483.7

p.K34Q

c.100A>C

1 paper

NM_031483.7

p.K33M

c.98A>T

1 paper

NM_031483.7

p.L29V

c.85C>G

1 paper

NM_031483.7

p.A27delFs

c.79delG

1 paper

NM_031483.7

p.I25I

c.75C>A