Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.L194R

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.L194R
c.581T>G
Surrounding Variants
1 paper
NM_001141969.2
p.Q193fs
c.577_578fs
1 paper
NM_001141970.2
p.Q205*
c.613C>T
2 papers
NM_001141969.2
p.E192delFs
c.576delC
1 paper
NM_001141969.2
p.E192D
c.576G>C
1 paper
NM_001141969.2
p.L191fs
c.571_572fs
2 papers
NM_001141969.2
p.R190H
c.569G>A
1 paper
NM_001141969.2
p.Y198C
c.593A>G
3 papers
NM_001141969.2
p.Y198fs
c.592_593fs
2 papers
NM_001141969.2
p.V199insFs
c.596_597ins4
1 paper
NM_001141969.2
p.Q189*
c.565C>T
1 paper
NM_001141969.2
p.I188V
c.562A>G
3 papers
NM_001141969.2
p.E201D
c.603G>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."