Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.L215F

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.L215F
c.645G>C
Surrounding Variants
1 paper
NM_001141969.2
p.L215F
c.645G>T
1 paper
NM_001141969.2
p.E214K
c.640G>A
1 paper
NM_001141969.2
p.L212_S213delFs
c.634_637del4
1 paper
NM_001141969.2
p.S213L
c.638C>T
1 paper
NM_001141969.2
p.S213*
c.638C>G
1 paper
NM_001141969.2
p.S213*
c.638C>A
1 paper
NM_001141969.2
p.P218fs
c.652_653fs
1 paper
NM_001141969.2
p.S213P
c.637T>C
1 paper
NM_001141969.2
p.S220A
c.658T>G
2 papers
NM_001141969.2
p.S220P
c.658T>C
1 paper
NM_001141969.2
p.S220F
c.659C>T
1 paper
NM_001141969.2
p.L210F
c.630G>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."