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.N755_S757del3

c.2263_2270del9

Surrounding Variants

1 paper

NM_001348323.3

p.T745M

c.2234C>T

1 paper

NM_001348323.3

p.L778P

c.2333T>C

1 paper

NM_001348323.3

p.C780Y

c.2339G>A

1 paper

NM_001348323.3

p.P787insFs

c.2359_2360insA

1 paper

NM_001348323.3

p.P787fs

c.2359_2360fs

2 papers

NM_001284215.2

p.A761V

c.2282C>T

1 paper

NM_001284216.2

p.N460_T461del2

c.1378_1382del6

1 paper

NM_001348323.3

p.A809S

c.2425G>T

5 papers

NM_004238.3

p.A761V

c.2282C>T

NM_001284215.2

p.A767V

c.2300C>T

1 paper

NM_001348323.3

p.R814H

c.2441G>A

1 paper

NM_001348323.3

p.G818S

c.2452G>A

1 paper

NM_001284215.2

p.A791V

c.2372C>T