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.S33C

c.97A>T

Surrounding Variants

1 paper

NM_000489.6

p.S33G

c.97A>G

1 paper

NM_000489.6

p.S33fs

c.97_98fs

3 papers

NM_000489.6

p.S34F

c.101C>T

2 papers

NM_000489.6

p.S34Y

c.101C>A

1 paper

NM_000489.6

p.P35T

c.103C>A

1 paper

NM_000489.6

p.S34delFs

c.102delA

1 paper

NM_000489.6

p.E30A

c.89A>C

1 paper

NM_000489.6

p.S26_E30delFs

c.76_88del13

2 papers

NM_000489.6

p.E30*

c.88G>T

1 paper

NM_000489.6

p.P36A

c.106C>G

2 papers

NM_000489.6

p.S29F

c.86C>T

2 papers

NM_000489.6

p.S29Y

c.86C>A