Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.R299*

DAXX

484 papers

RefSeq Summary

This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centrom...

Pfam Domains

Daxxaa 48–146UCSCDaxx N-terminal Rassf1C-interacting domain
DAXX_hist_bdaa 295–381UCSCDeath domain-associated protein 6, histone binding domain

Gene Aliases

HGNC Name

death domain associated protein

HGNC Alias Symbol

DAP6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001141969.2
p.R299*
c.895C>T
Surrounding Variants
1 paper
NM_001141969.2
p.R299Q
c.896G>A
6 papers
NM_001141969.2
p.A297P
c.889G>C
1 paper
NM_001141969.2
p.L302fs
c.904_905fs
1 paper
NM_001141969.2
p.L302delFs
c.905_906delAA
1 paper
NM_001141969.2
p.A292_V293del2
c.874_878del6
1 paper
NM_001141969.2
p.V293I
c.877G>A
6 papers
NM_001141969.2
p.R306*
c.916C>T
1 paper
NM_001141969.2
p.R291fs
c.871_872fs
2 papers
NM_001141969.2
p.R306Q
c.917G>A
3 papers
NM_001141969.2
p.R291W
c.871C>T
1 paper
NM_001141970.2
p.Q320*
c.958C>T
1 paper
NM_001141969.2
p.L290insFs
c.868_869insA
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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."