Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.E478K

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.E478K
c.1432G>A
Surrounding Variants
1 paper
NM_001141969.2
p.D477E
c.1431T>G
1 paper
NM_001141969.2
p.D477E
c.1431T>A
1 paper
NM_001141969.2
p.E478D
c.1434A>T
1 paper
NM_001141969.2
p.E478D
c.1434A>C
1 paper
NM_001141969.2
p.D481A
c.1442A>C
2 papers
NM_001141969.2
p.E482K
c.1444G>A
1 paper
NM_001141969.2
p.E483*
c.1447G>T
1 paper
NM_001141969.2
p.E485K
c.1453G>A
1 paper
NM_001141970.2
p.M482_Q483delins
c.1446_1447delinsAT
1 paper
NM_001141969.2
p.Q469_M470delFs
c.1406_1410del5
1 paper
NM_001141969.2
p.A486T
c.1456G>A
2 papers
NM_001141969.2
p.Q469H
c.1407G>T
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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."