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

1–12 of 308 variants

7 papers

NM_001348323.3

p.Q338*

c.1012C>T

5 papers

NM_004238.3

p.S1248Splc

c.3743+1G>A

4 papers

NM_001348323.3

p.P5L

c.14C>T

4 papers

NM_004238.3

p.A761V

c.2282C>T

3 papers

NM_001348323.3

p.R14*

c.40C>T

3 papers

NM_001348323.3

p.P91insFs

c.273dupA

3 papers

NM_001284215.2

p.S154delFs

c.460_461delCT

3 papers

NM_001284215.2

p.R338*

c.1012C>T

3 papers

NM_001348323.3

p.R380*

c.1138C>T

3 papers

NM_001348323.3

p.S669R

c.2007C>A

3 papers

NM_001284216.2

p.H338Y

c.1012C>T

3 papers

NM_004238.3

p.Q993insFs

c.2979dupA