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.P332H

c.995C>A

Surrounding Variants

1 paper

NM_001284215.2

p.P292S

c.874C>T

1 paper

NM_001348323.3

p.P334L

c.1001C>T

1 paper

NM_001348323.3

p.S335T

c.1003T>A

7 papers

NM_001348323.3

p.Q338*

c.1012C>T

1 paper

NM_001348323.3

p.A342insFs

c.1025_1026ins44

1 paper

NM_004238.3

p.P280S

c.838C>T

1 paper

NM_001348323.3

p.S343Splc

c.1027+1G>A

1 paper

NM_001348323.3

p.K316E

c.946A>G

1 paper

NM_001348323.3

p.S313N

c.938G>A

1 paper

NM_001348323.3

p.R307H

c.920G>A

1 paper

NM_001348323.3

p.S300L

c.899C>T

1 paper

NM_001348323.3

p.S283R

c.849C>G