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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_001348323.3

p.R4W

c.10C>T

4 papers

NM_001348323.3

p.P5L

c.14C>T

1 paper

NM_001348323.3

p.P5H

c.14C>A

1 paper

NM_001348323.3

p.S12*

c.35C>G

3 papers

NM_001348323.3

p.R14*

c.40C>T

1 paper

NM_001348323.3

p.R15C

c.43C>T

1 paper

NM_001348323.3

p.R18S

c.54G>T

1 paper

NM_001348323.3

p.R18S

c.54G>C

1 paper

NM_001348323.3

p.G22W

c.64G>T

1 paper

NM_001348323.3

p.G22R

c.64G>C

1 paper

NM_001348323.3

p.G22R

c.64G>A