Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3BP
Variant:p.E94*

ITGB3BP

14 papers

RefSeq Summary

This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein al...

Pfam Domains

CENP-Raa 25–162UCSCKinetochore component, CENP-R

Gene Aliases

HGNC Name

integrin subunit beta 3 binding protein

HGNC Alias Symbols

NRIF3; HSU37139; TAP20; CENPR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014288.5
p.E94*
c.280G>T
Surrounding Variants
1 paper
NM_014288.5
p.M87V
c.259A>G
1 paper
NM_014288.5
p.A112_L113delFs
c.334_337del4
1 paper
NM_014288.5
p.L151_F152delFs
c.453_454delAC
1 paper
NM_014288.5
p.F152fs
c.454_455fs
1 paper
NM_014288.5
p.F152_E153delFs
c.454_457del4
1 paper
NM_014288.5
p.S155N
c.464G>A
1 paper
NM_014288.5
p.K173E
c.517A>G
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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."