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.V518M

c.1552G>A

Surrounding Variants

1 paper

NM_000489.6

p.I517fs

c.1549_1550fs

1 paper

NM_000489.6

p.V518A

c.1553T>C

1 paper

NM_000489.6

p.D514_I517del4

c.1540_1550del12

1 paper

NM_000489.6

p.S519fs

c.1555_1556fs

1 paper

NM_000489.6

p.I517L

c.1549A>C

1 paper

NM_000489.6

p.S519Y

c.1556C>A

2 papers

NM_000489.6

p.V520F

c.1558G>T

1 paper

NM_000489.6

p.V520I

c.1558G>A

1 paper

NM_000489.6

p.M515I

c.1545G>T

1 paper

NM_000489.6

p.M515fs

c.1543_1544fs

1 paper

NM_000489.6

p.M515I

c.1545G>C

1 paper

NM_000489.6

p.M515I

c.1545G>A