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

3 papers

NM_001348323.3

p.S669R

c.2007C>A

Surrounding Variants

1 paper

NM_001348323.3

p.R676C

c.2026C>T

2 papers

NM_004238.3

p.N632fs

c.1894_1895fs

3 papers

NM_001284216.2

p.H338Y

c.1012C>T

2 papers

NM_004238.3

p.Q641*

c.1921C>T

NM_001348323.3

p.Q689*

c.2065C>T

2 papers

NM_001284216.2

p.L352F

c.1054C>T

1 paper

NM_004238.3

p.I662fs

c.1984_1985fs

1 paper

NM_004238.3

p.P661delFs

c.1983delG

1 paper

NM_004238.3

p.Q614Q

c.1842G>A

1 paper

NM_001284216.2

p.R313K

c.938G>A

1 paper

NM_004238.3

p.Q609delFs

c.1825delG

1 paper

NM_004238.3

p.Q609fs

c.1825_1826fs

1 paper

NM_001348323.3

p.L652_P653insC

c.1954_1958ins3