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.R599W

c.1795C>T

Surrounding Variants

2 papers

NM_001348323.3

p.R599Q

c.1796G>A

1 paper

NM_001348323.3

p.L597_S598del1

c.1790_1792delACA

1 paper

NM_001348323.3

p.A593V

c.1778C>T

1 paper

NM_001348323.3

p.I605F

c.1813A>T

1 paper

NM_001348323.3

p.E588E

c.1764G>A

1 paper

NM_001348323.3

p.A608_G609Splc

c.1825-7A>G

1 paper

NM_001348323.3

p.F621L

c.1861T>C

1 paper

NM_001348323.3

p.F621L

c.1863C>G

1 paper

NM_001348323.3

p.F621L

c.1863C>A

1 paper

NM_001348323.3

p.S639G

c.1915A>G

1 paper

NM_001348323.3

p.L652_P653insC

c.1954_1958ins3

1 paper

NM_004238.3

p.Q609fs

c.1825_1826fs