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.E238K

c.712G>A

Surrounding Variants

1 paper

NM_031483.7

p.T244R

c.731C>G

1 paper

NM_031483.7

p.T244_G245insFs

c.732_733insG

1 paper

NM_031483.7

p.G245S

c.733G>A

1 paper

NM_031483.7

p.G245G

c.735C>T

1 paper

NM_031483.7

p.A260_T261insFs

c.780_781insA

2 papers

NM_031483.7

p.G272*

c.814G>T

2 papers

NM_031483.7

p.P278T

c.832C>A

1 paper

NM_031483.7

p.P278A

c.832C>G

1 paper

NM_031483.7

p.V282I

c.844G>A

1 paper

NM_031483.7

p.R225K

c.674G>A

1 paper

NM_031483.7

p.T222A

c.664A>G

1 paper

NM_031483.7

p.P221insFs

c.662_663insG