Varaico: Literature-Extracted Genetic Variants

Gene:ITCH
Variant:p.S159Splc

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.S159Splc
c.475+3303T>C
Surrounding Variants
2 papers
NM_031483.7
p.S159Splc
c.475+3304G>A
2 papers
NM_031483.7
p.S159Splc
c.475+3299C>G
2 papers
NM_031483.7
p.S159Splc
c.475+3310C>T
2 papers
NM_031483.7
p.S159Splc
c.475+3311G>A
2 papers
NM_031483.7
p.S159Splc
c.475+3316T>C
2 papers
NM_031483.7
p.S159Splc
c.475+3287G>A
2 papers
NM_031483.7
p.S159Splc
c.475+3286C>T
2 papers
NM_031483.7
p.S159Splc
c.475+3320T>C
2 papers
NM_031483.7
p.S159Splc
c.475+3281G>A
2 papers
NM_031483.7
p.S159Splc
c.475+3280C>T
2 papers
NM_031483.7
p.S159Splc
c.475+3278T>C
2 papers
NM_031483.7
p.S159Splc
c.475+3276A>G
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