Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_001141969.2

p.R306Q

c.917G>A

Surrounding Variants

6 papers

NM_001141969.2

p.R306*

c.916C>T

1 paper

NM_001141970.2

p.Q320*

c.958C>T

2 papers

NM_001141969.2

p.L309ins1

c.925_926insAGT

1 paper

NM_001141969.2

p.L302delFs

c.905_906delAA

1 paper

NM_001141969.2

p.Q310*

c.928C>T

1 paper

NM_001141969.2

p.L302fs

c.904_905fs

1 paper

NM_001141969.2

p.L311F

c.931C>T

1 paper

NM_001141969.2

p.R299Q

c.896G>A

1 paper

NM_001141969.2

p.A313V

c.938C>T

6 papers

NM_001141969.2

p.R299*

c.895C>T

1 paper

NM_001141969.2

p.Q314*

c.940C>T

6 papers

NM_001141969.2

p.A297P

c.889G>C