Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.E553D

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.E553D
c.1659G>C
Surrounding Variants
1 paper
NM_001141969.2
p.E553D
c.1659G>T
1 paper
NM_001141969.2
p.E553K
c.1657G>A
1 paper
NM_001141969.2
p.P552L
c.1655C>T
1 paper
NM_001141969.2
p.E553_E554del2
c.1657_1661del6
1 paper
NM_001141969.2
p.P552fs
c.1654_1655fs
1 paper
NM_001141969.2
p.E558K
c.1672G>A
1 paper
NM_001141969.2
p.P540_E546delFs
c.1618_1637del20
1 paper
NM_001141969.2
p.E546A
c.1637A>C
1 paper
NM_001141969.2
p.E546K
c.1636G>A
1 paper
NM_001141969.2
p.D544_A545delFs
c.1631_1635del5
2 papers
NM_001141969.2
p.A545T
c.1633G>A
1 paper
NM_001141969.2
p.D544fs
c.1630_1631fs
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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."