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.M515fs

c.1543_1544fs

Surrounding Variants

1 paper

NM_000489.6

p.M515I

c.1545G>T

1 paper

NM_000489.6

p.M515I

c.1545G>C

1 paper

NM_000489.6

p.M515I

c.1545G>A

1 paper

NM_000489.6

p.M515V

c.1543A>G

1 paper

NM_000489.6

p.M515insFs

c.1543_1544insG

1 paper

NM_000489.6

p.D514delFs

c.1540_1541delTC

1 paper

NM_000489.6

p.D514G

c.1541A>G

1 paper

NM_000489.6

p.I517L

c.1549A>C

1 paper

NM_000489.6

p.D514Y

c.1540G>T

1 paper

NM_000489.6

p.L513delFs

c.1538_1539delTA

1 paper

NM_000489.6

p.D514fs

c.1540_1541fs

1 paper

NM_000489.6

p.I517fs

c.1549_1550fs