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

2 papers

NM_004238.3

p.C1124fs

c.3370_3371fs

Surrounding Variants

1 paper

NM_004238.3

p.C1124delFs

c.3370delA

1 paper

NM_004238.3

p.Q1121*

c.3361C>T

2 papers

NM_001284215.2

p.A1149delFs

c.3446_3447delTG

1 paper

NM_001348323.3

p.Q1208_V1209Splc

c.3624+1G>A

2 papers

NM_001348323.3

p.E1183_N1184delFs

c.3549_3550delTC

2 papers

NM_001348323.3

p.E1183fs

c.3547_3548fs

1 paper

NM_001348323.3

p.V1176I

c.3526G>A

3 papers

NM_004238.3

p.R1086Splc

c.3258-2A>T

1 paper

NM_004238.3

p.D1135V

c.3404A>T

2 papers

NM_004238.3

p.S1149*

c.3446C>G

2 papers

NM_004238.3

p.S1149*

c.3446C>A

3 papers

NM_004238.3

p.S1149delFs

c.3446_3447delTG