Varaico: Literature-Extracted Genetic Variants

Gene:TRIP13
Variant:p.A430delFs

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.A430delFs
c.1290delT
Surrounding Variants
1 paper
NM_004237.4
p.A429_A430delFs
c.1286_1289del4
3 papers
NM_004237.4
p.K420E
c.1258A>G
1 paper
NM_004237.4
p.A417T
c.1249G>A
1 paper
NM_004237.4
p.L416P
c.1247T>C
1 paper
NM_004237.4
p.G409E
c.1226G>A
1 paper
NM_004237.4
p.T404A
c.1210A>G
1 paper
NM_004237.4
p.Q401*
c.1201C>T
1 paper
NM_004237.4
p.A397V
c.1190C>T
1 paper
NM_004237.4
p.P392S
c.1174C>T
1 paper
NM_004237.4
p.V387V
c.1161C>T
3 papers
NM_004237.4
p.S384G
c.1150A>G
5 papers
NM_004237.4
p.E381K
c.1141G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."