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.R185Q

c.554G>A

Surrounding Variants

2 papers

NM_001141969.2

p.R185fs

c.553_554fs

1 paper

NM_001141969.2

p.R185delFs

c.553_554delCG

1 paper

NM_001141969.2

p.S184F

c.551C>T

1 paper

NM_001141969.2

p.S184P

c.550T>C

1 paper

NM_001141969.2

p.I188V

c.562A>G

1 paper

NM_001141969.2

p.Q189*

c.565C>T

1 paper

NM_001141969.2

p.T181fs

c.541_542fs

1 paper

NM_001141969.2

p.T181I

c.542C>T

2 papers

NM_001141969.2

p.R190H

c.569G>A

1 paper

NM_001141969.2

p.L191fs

c.571_572fs

1 paper

NM_001141969.2

p.P179fs

c.535_536fs

1 paper

NM_001141969.2

p.E192D

c.576G>C