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.V63G

c.188T>G

Surrounding Variants

2 papers

NM_001348323.3

p.T102insFs

c.304dupA

1 paper

NM_004238.3

p.Q58K

c.172C>A

1 paper

NM_001348323.3

p.R112*

c.334C>T

1 paper

NM_001348323.3

p.R112Q

c.335G>A

1 paper

NM_001348323.3

p.A94fs

c.280_281fs

1 paper

NM_001348323.3

p.R116delFs

c.347delC

3 papers

NM_001348323.3

p.P91insFs

c.273dupA

1 paper

NM_001348323.3

p.E89_D90insFs

c.267_268insG

1 paper

NM_001348323.3

p.E89insFs

c.266_267insAA

1 paper

NM_001348323.3

p.P88Q

c.263C>A

1 paper

NM_001348323.3

p.V85D

c.254T>A

1 paper

NM_001348323.3

p.S127F

c.380C>T