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.D1487delFs

c.4459delC

Surrounding Variants

1 paper

NM_000489.6

p.D1487fs

c.4459_4460fs

1 paper

NM_000489.6

p.K1488fs

c.4462_4463fs

1 paper

NM_000489.6

p.K1488delFs

c.4464delT

1 paper

NM_000489.6

p.L1489Q

c.4466T>A

1 paper

NM_000489.6

p.L1484L

c.4452T>A

1 paper

NM_000489.6

p.L1484F

c.4450C>T

1 paper

NM_000489.6

p.T1491fs

c.4471_4472fs

1 paper

NM_000489.6

p.E1492G

c.4475A>G

5 papers

NM_000489.6

p.R1481W

c.4441C>T

1 paper

NM_000489.6

p.K1479fs

c.4435_4436fs

2 papers

NM_000489.6

p.N1495fs

c.4483_4484fs

1 paper

NM_000489.6

p.K1478insFs

c.4433_4434insA