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

2 papers

NM_004238.3

p.Q378*

c.1132C>T

Surrounding Variants

1 paper

NM_001348323.3

p.A418D

c.1253C>A

1 paper

NM_001348323.3

p.A424Splc

c.1270+1G>A

1 paper

NM_001348323.3

p.R414W

c.1240C>T

2 papers

NM_001284215.2

p.R352*

c.1054C>T

1 paper

NM_001348323.3

p.A392_R393insAA

c.1174_1178ins6

1 paper

NM_004238.3

p.L342insFs

c.1025_1026ins44

6 papers

NM_001284215.2

p.R338*

c.1012C>T

NM_001348323.3

p.R380*

c.1138C>T

1 paper

NM_001348323.3

p.A424Splc

c.1271-2560A>G

1 paper

NM_001348323.3

p.R367C

c.1099C>T

1 paper

NM_001348323.3

p.S343fs

c.1027_1028fs

1 paper

NM_001284215.2

p.A382Splc

c.1145-2A>C

1 paper

NM_001348323.3

p.A429A

c.1287A>G