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

5 papers

NM_004238.3

p.S1248Splc

c.3743+1G>A

Surrounding Variants

1 paper

NM_004238.3

p.Q1231_H1237delFs

c.3691_3710del20

1 paper

NM_004238.3

p.L1226F

c.3676C>T

1 paper

NM_001348323.3

p.N1299D

c.3895A>G

1 paper

NM_001348323.3

p.N1298D

c.3892A>G

1 paper

NM_001348323.3

p.S1271delFs

c.3811delA

1 paper

NM_004238.3

p.S1195delFs

c.3583delA

1 paper

NM_004238.3

p.S1195fs

c.3583_3584fs

1 paper

NM_001348323.3

p.D1253_A1254delFs

c.3759_3760delCA

1 paper

NM_001348323.3

p.K1252R

c.3755A>G

1 paper

NM_001348323.3

p.F1238S

c.3713T>C

1 paper

NM_001348323.3

p.F1231_G1237delFs

c.3691_3710del20

1 paper

NM_001348323.3

p.E1225fs

c.3673_3674fs