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_001284214.2

p.S1084L

c.3251C>T

Surrounding Variants

2 papers

NM_001284216.2

p.P767L

c.2300C>T

1 paper

NM_001348323.3

p.T1107I

c.3320C>T

2 papers

NM_001284216.2

p.P761L

c.2282C>T

1 paper

NM_001348323.3

p.N1133D

c.3397A>G

1 paper

NM_001348323.3

p.N1135I

c.3404A>T

1 paper

NM_001348323.3

p.G1145R

c.3433G>C

1 paper

NM_001348323.3

p.G1145S

c.3433G>A

3 papers

NM_004238.3

p.R1086Splc

c.3257+1G>A

NM_001284215.2

p.R1119Splc

c.3356+1G>A

2 papers

NM_004238.3

p.R995*

c.2983C>T

3 papers

NM_004238.3

p.R1086Splc

c.3258-2A>T

1 paper

NM_001348323.3

p.V1176I

c.3526G>A

2 papers

NM_001348323.3

p.E1183fs

c.3547_3548fs