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.R498_K499delFs

c.1493_1496del4

Surrounding Variants

1 paper

NM_000489.6

p.K499K

c.1497A>G

1 paper

NM_000489.6

p.K499fs

c.1495_1496fs

1 paper

NM_000489.6

p.E501*

c.1501G>T

1 paper

NM_000489.6

p.R498K

c.1493G>A

1 paper

NM_000489.6

p.K499_E500delFs

c.1496_1500del5

6 papers

NM_000489.6

p.R498G

c.1492A>G

1 paper

NM_000489.6

p.E501G

c.1502A>G

1 paper

NM_000489.6

p.D497fs

c.1489_1490fs

1 paper

NM_000489.6

p.E501E

c.1503A>G

1 paper

NM_000489.6

p.Q503*

c.1507C>T

1 paper

NM_000489.6

p.K495delFs

c.1485delT

1 paper

NM_000489.6

p.Q503Q

c.1509A>G