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.Q182H

c.546A>T

Surrounding Variants

1 paper

NM_000489.6

p.Q182Q

c.546A>G

1 paper

NM_000489.6

p.Q182fs

c.544_545fs

2 papers

NM_000489.6

p.Q182*

c.544C>T

1 paper

NM_000489.6

p.N179_Q182delFs

c.535_545del11

2 papers

NM_000489.6

p.K183fs

c.547_548fs

2 papers

NM_000489.6

p.D184fs

c.550_551fs

1 paper

NM_000489.6

p.D184Y

c.550G>T

2 papers

NM_000489.6

p.K183delFs

c.549delT

1 paper

NM_000489.6

p.Q176_K183delFs

c.528_549del22

1 paper

NM_000489.6

p.D184fs

c.550_551fs

1 paper

NM_000489.6

p.D184E

c.552T>A

1 paper

NM_000489.6

p.H180L

c.539A>T