Varaico: Literature-Extracted Genetic Variants

TRIP13

92 papers

RefSeq Summary

This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain...

Pfam Domains

TRIP13_Naa 16–105UCSCTRIP13 N-terminal domain

AAAaa 175–321UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_TRIP13_Caa 323–422UCSCTRIP13-like, AAA+ ATPase lid C-terminal domain

Gene Aliases

HGNC Name

thyroid hormone receptor interactor 13

HGNC Alias Symbol

16E1BP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 99 variants

11 papers

NM_004237.4

p.H26R

c.77A>G

9 papers

NM_004237.4

p.E253Q

c.757G>C

8 papers

NM_004237.4

p.R173Q

c.518G>A

8 papers

NM_004237.4

p.V247M

c.739G>A

7 papers

NM_004237.4

p.I198V

c.592A>G

6 papers

NM_004237.4

p.E303K

c.907G>A

6 papers

NM_004237.4

p.R354*

c.1060C>T

5 papers

NM_004237.4

p.E381K

c.1141G>A

4 papers

NM_004237.4

p.E224_S225Splc

c.673-1G>C

3 papers

NM_004237.4

p.S384G

c.1150A>G

3 papers

NM_004237.4

p.K420E

c.1258A>G

2 papers

NM_004237.4

p.V15V

c.45G>C