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_004238.3

p.M399fs

c.1195_1196fs

Surrounding Variants

1 paper

NM_004238.3

p.M399insFs

c.1195dupA

1 paper

NM_004238.3

p.E398*

c.1192G>T

1 paper

NM_001348323.3

p.L450*

c.1349T>A

1 paper

NM_001348323.3

p.A429A

c.1287A>G

1 paper

NM_004238.3

p.G382Splc

c.1145-2A>C

1 paper

NM_001284215.2

p.A382Splc

c.1145-2A>C

1 paper

NM_001348323.3

p.P460_P461del2

c.1378_1382del6

1 paper

NM_001348323.3

p.R470W

c.1408C>T

1 paper

NM_001348323.3

p.A424Splc

c.1271-2560A>G

1 paper

NM_001348323.3

p.A424Splc

c.1270+1G>A

2 papers

NM_004238.3

p.Q378*

c.1132C>T

1 paper

NM_001348323.3

p.A418D

c.1253C>A