Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.R251fs

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.R251fs
c.751_752fs
Surrounding Variants
2 papers
NM_001141969.2
p.G250C
c.748G>T
NM_001141970.2
p.G262C
c.784G>T
1 paper
NM_001141969.2
p.Q255*
c.763C>T
1 paper
NM_001141969.2
p.R256C
c.766C>T
3 papers
NM_001141969.2
p.R256H
c.767G>A
1 paper
NM_001141969.2
p.S246C
c.737C>G
1 paper
NM_001141969.2
p.S246_I257del12
c.736_770del36
1 paper
NM_001141969.2
p.P258L
c.773C>T
1 paper
NM_001141969.2
p.D244G
c.731A>G
1 paper
NM_001141969.2
p.D244Y
c.730G>T
1 paper
NM_001141969.2
p.C240*
c.720T>A
1 paper
NM_001141969.2
p.L239_C240delFs
c.717_718delAT
2 papers
NM_001141969.2
p.R263C
c.787C>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."