Varaico: Literature-Extracted Genetic Variants

TRIP12

162 papers

RefSeq Summary

The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA...

Pfam Domains

TPR_TRIP12_Naa 347–607UCSCE3 ubiquitin-protein ligase TRIP12-like, TPR repeats

WWEaa 809–873UCSCWWE domain

HECTaa 1711–2067UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

thyroid hormone receptor interactor 12

HGNC Alias Symbols

KIAA0045; ULF; TRIPC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001348323.3

p.S130T

c.388T>A

Surrounding Variants

1 paper

NM_001348323.3

p.S130Y

c.389C>A

1 paper

NM_001348323.3

p.S130S

c.390T>A

1 paper

NM_001348323.3

p.A131insFs

c.392_393insAA

1 paper

NM_001348323.3

p.S127F

c.380C>T

1 paper

NM_001348323.3

p.K132N

c.396A>T

1 paper

NM_001348323.3

p.K132N

c.396A>C

1 paper

NM_001348323.3

p.K133fs

c.397_398fs

3 papers

NM_004238.3

p.K91insFs

c.273dupA

NM_001348323.3

p.K133insFs

c.399dupA

1 paper

NM_004238.3

p.P92fs

c.274_275fs

1 paper

NM_001348323.3

p.R116delFs

c.347delC

1 paper

NM_001348323.3

p.R112Q

c.335G>A

1 paper

NM_001348323.3

p.R112*

c.334C>T