Varaico: Literature-Extracted Genetic Variants

ATRX

1,756 papers

RefSeq Summary

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent p...

Pfam Domains

ADD_ATRXaa 158–213UCSCCysteine Rich ADD domain

SNF2-rel_domaa 1563–1888UCSCSNF2-related domain

Helicase_Caa 2018–2155UCSCHelicase conserved C-terminal domain

ATRX_Caa 2316–2416UCSCATRX C-terminal domain

Gene Aliases

HGNC Name

ATRX chromatin remodeler

HGNC Previous Symbols

RAD54; JMS; MRX52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000489.6

p.G777*

c.2329G>T

Surrounding Variants

1 paper

NM_000489.6

p.G777_K778ins8

c.2329_2333ins24

1 paper

NM_000489.6

p.G777R

c.2329G>C

1 paper

NM_000489.6

p.G777R

c.2329G>A

1 paper

NM_000489.6

p.K776T

c.2327A>C

1 paper

NM_000489.6

p.D775insFs

c.2324_2325ins8

1 paper

NM_000489.6

p.K778fs

c.2332_2333fs

1 paper

NM_000489.6

p.D775Y

c.2323G>T

1 paper

NM_000489.6

p.R779insFs

c.2335_2336ins10

1 paper

NM_000489.6

p.R779K

c.2336G>A

1 paper

NM_000489.6

p.R779delFs

c.2335delT

2 papers

NM_000489.6

p.R779fs

c.2335_2336fs

1 paper

NM_000489.6

p.K778_R779delFs

c.2332_2336del5