Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.R269S

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
1 paper
NM_001141969.2
p.R269S
c.807G>T
Surrounding Variants
1 paper
NM_001141969.2
p.R269S
c.807G>C
2 papers
NM_001141969.2
p.R269K
c.806G>A
1 paper
NM_001141969.2
p.N268delFs
c.803_804delGT
1 paper
NM_001141969.2
p.R270H
c.809G>A
1 paper
NM_001141970.2
p.N280K
c.840C>G
1 paper
NM_001141969.2
p.R270fs
c.808_809fs
1 paper
NM_001141970.2
p.N280K
c.840C>A
3 papers
NM_001141969.2
p.N268S
c.803A>G
NM_001141970.2
p.N280S
c.839A>G
1 paper
NM_001141969.2
p.R270insFs
c.810dupC
1 paper
NM_001141969.2
p.E272K
c.814G>A
1 paper
NM_001141969.2
p.E266E
c.798G>A
1 paper
NM_001141969.2
p.R273P
c.818G>C
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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."