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_004238.3

p.S809Splc

c.2426-1G>A

Surrounding Variants

1 paper

NM_004238.3

p.R820*

c.2458C>T

1 paper

NM_001348323.3

p.A894_A896delFs

c.2682_2688del7

2 papers

NM_004238.3

p.P828A

c.2482C>G

1 paper

NM_001348323.3

p.I910delFs

c.2729_2730delAA

1 paper

NM_001348323.3

p.E919K

c.2755G>A

1 paper

NM_001348323.3

p.V920A

c.2759T>C

1 paper

NM_001348323.3

p.R935G

c.2803A>G

2 papers

NM_004238.3

p.A871fs

c.2611_2612fs

1 paper

NM_004238.3

p.A871delFs

c.2612delG

1 paper

NM_001348323.3

p.V975M

c.2923G>A

1 paper

NM_004238.3

p.G901fs

c.2701_2702fs

1 paper

NM_001348323.3

p.S993insFs

c.2979dupT