Varaico: Literature-Extracted Genetic Variants

Gene:TRIP13
Variant:p.D238N

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.D238N
c.712G>A
Surrounding Variants
1 paper
NM_004237.4
p.I236insFs
c.707dupT
1 paper
NM_004237.4
p.K231E
c.691A>G
8 papers
NM_004237.4
p.V247M
c.739G>A
4 papers
NM_004237.4
p.E224_S225Splc
c.673-1G>C
9 papers
NM_004237.4
p.E253Q
c.757G>C
1 paper
NM_004237.4
p.E253A
c.758A>C
1 paper
NM_004237.4
p.L257V
c.769C>G
1 paper
NM_004237.4
p.A260T
c.778G>A
1 paper
NM_004237.4
p.A266_G267insFs
c.798_799insG
1 paper
NM_004237.4
p.T268I
c.803C>T
1 paper
NM_004237.4
p.E269A
c.806A>C
1 paper
NM_004237.4
p.D272A
c.815A>C
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