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

1 paper

NM_001141969.2

p.A116T

c.346G>A

Surrounding Variants

2 papers

NM_001141969.2

p.R115Q

c.344G>A

1 paper

NM_001141969.2

p.A116fs

c.346_347fs

1 paper

NM_001141969.2

p.S118T

c.353G>C

1 paper

NM_001141969.2

p.R119W

c.355C>T

2 papers

NM_001141969.2

p.R119Q

c.356G>A

1 paper

NM_001141969.2

p.P120L

c.359C>T

2 papers

NM_001141969.2

p.S110delFs

c.329_330delAG

2 papers

NM_001141969.2

p.S110fs

c.328_329fs

2 papers

NM_001141969.2

p.I108S

c.323T>G

1 paper

NM_001141969.2

p.N107S

c.320A>G

2 papers

NM_001141970.2

p.C118*

c.354C>A

NM_001141969.2

p.C106*

c.318C>A

1 paper

NM_001141969.2

p.Y126fs

c.376_377fs