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.P282L

c.845C>T

Surrounding Variants

1 paper

NM_001348323.3

p.S283R

c.847A>C

1 paper

NM_001348323.3

p.S283R

c.849C>G

1 paper

NM_001348323.3

p.S283R

c.849C>A

1 paper

NM_001348323.3

p.S276S

c.828C>G

1 paper

NM_001348323.3

p.G267E

c.800G>A

1 paper

NM_001348323.3

p.G267_K268insG

c.799_803ins3

1 paper

NM_001348323.3

p.Q266_G267insAA

c.796_800ins6

1 paper

NM_001348323.3

p.S300L

c.899C>T

1 paper

NM_001348323.3

p.R307H

c.920G>A

1 paper

NM_001348323.3

p.A252_S253del1

c.755_757delAGG

1 paper

NM_001348323.3

p.S313N

c.938G>A

1 paper

NM_001348323.3

p.K316E

c.946A>G