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.C198G

c.592T>G

Surrounding Variants

4 papers

NM_001284215.2

p.S154delFs

c.460_461delCT

NM_001348323.3

p.E195_S196delFs

c.585_586delTC

3 papers

NM_001284215.2

p.S154fs

c.460_461fs

1 paper

NM_001348323.3

p.E195K

c.583G>A

1 paper

NM_001348323.3

p.G202G

c.606C>G

1 paper

NM_004238.3

p.S163fs

c.487_488fs

1 paper

NM_001348323.3

p.S207*

c.620C>G

1 paper

NM_001348323.3

p.G185A

c.554G>C

1 paper

NM_001348323.3

p.T218insFs

c.652_653insC

1 paper

NM_001348323.3

p.T172_S173insAA

c.514_518ins6

1 paper

NM_001348323.3

p.S227L

c.680C>T

2 papers

NM_001348323.3

p.T234S

c.700A>T

2 papers

NM_001348323.3

p.T234S

c.701C>G