Varaico: Literature-Extracted Genetic Variants

Gene:TRIP13
Variant:p.G320A

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
Selected Variant
1 paper
NM_004237.4
p.G320A
c.959G>C
Surrounding Variants
1 paper
NM_004237.4
p.I319insFs
c.956_957insA
1 paper
NM_004237.4
p.A313V
c.938C>T
1 paper
NM_004237.4
p.A308T
c.922G>A
1 paper
NM_004237.4
p.L335Fs
c.1003delinsGAFs
6 papers
NM_004237.4
p.E303K
c.907G>A
1 paper
NM_004237.4
p.M339T
c.1016T>C
1 paper
NM_004237.4
p.T297delFs
c.890delC
1 paper
NM_004237.4
p.K340_C341Splc
c.1021-20C>T
2 papers
NM_004237.4
p.K340_C341Splc
c.1021-11T>C
1 paper
NM_004237.4
p.P346L
c.1037C>T
6 papers
NM_004237.4
p.R354*
c.1060C>T
1 paper
NM_004237.4
p.E355insFs
c.1064dupA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."