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_004238.3

p.Q993insFs

c.2979dupA

Surrounding Variants

1 paper

NM_001348323.3

p.G1069C

c.3205G>T

3 papers

NM_004238.3

p.G994fs

c.2980_2981fs

1 paper

NM_001348323.3

p.G1069Splc

c.3206+1G>T

1 paper

NM_001348323.3

p.S1066N

c.3197G>A

1 paper

NM_004238.3

p.S987fs

c.2959_2960fs

1 paper

NM_004238.3

p.S987insFs

c.2959dupT

1 paper

NM_001348323.3

p.T1044I

c.3131C>T

1 paper

NM_001348323.3

p.G1038E

c.3113G>A

1 paper

NM_001348323.3

p.A1021G

c.3062C>G

1 paper

NM_001348323.3

p.T1016A

c.3046A>G

1 paper

NM_001348323.3

p.S1013_L1014insFs

c.3038_3041dup4

1 paper

NM_001348323.3

p.L1014fs

c.3040_3041fs