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

2 papers

NM_000489.6

p.E1456K

c.4366G>A

Surrounding Variants

1 paper

NM_000489.6

p.E1443_E1452del10

c.4327_4355del30

1 paper

NM_000489.6

p.E1456G

c.4367A>G

1 paper

NM_000489.6

p.E1454_E1455delFs

c.4360_4363del4

1 paper

NM_000489.6

p.E1457K

c.4369G>A

2 papers

NM_000489.6

p.E1453del1

c.4357_4358delCTC

1 paper

NM_000489.6

p.E1454G

c.4361A>G

1 paper

NM_000489.6

p.E1454A

c.4361A>C

2 papers

NM_000489.6

p.E1454*

c.4360G>T

1 paper

NM_000489.6

p.E1458*

c.4372G>T

1 paper

NM_000489.6

p.E1458K

c.4372G>A

1 paper

NM_000489.6

p.K1449_E1453del0

c.4347_4358del12

1 paper

NM_000489.6

p.E1448_E1453del0

c.4344_4358del15