Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.L330P

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.L330P
c.989T>C
Surrounding Variants
2 papers
NM_001141969.2
p.D331Y
c.991G>T
1 paper
NM_001141969.2
p.D331A
c.992A>C
1 paper
NM_001141969.2
p.R328G
c.982C>G
2 papers
NM_001141969.2
p.R327*
c.979C>T
1 paper
NM_001141969.2
p.N335Fs
c.1003delinsGAFs
1 paper
NM_001141969.2
p.F336S
c.1007T>C
1 paper
NM_001141969.2
p.G337fs
c.1009_1010fs
1 paper
NM_001141970.2
p.C350R
c.1048T>C
1 paper
NM_001141969.2
p.C338S
c.1012T>A
1 paper
NM_001141969.2
p.C338S
c.1013G>C
1 paper
NM_001141969.2
p.C338Y
c.1013G>A
2 papers
NM_001141969.2
p.G321insFs
c.962_963ins22
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."