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.L452*

c.1355T>A

Surrounding Variants

1 paper

NM_000489.6

p.L452W

c.1355T>G

2 papers

NM_000489.6

p.A451fs

c.1351_1352fs

3 papers

NM_000489.6

p.E453K

c.1357G>A

1 paper

NM_000489.6

p.E453delFs

c.1357delC

1 paper

NM_000489.6

p.A451_L452insC

c.1351_1355ins3

1 paper

NM_000489.6

p.A451T

c.1351G>A

1 paper

NM_000489.6

p.E453fs

c.1357_1358fs

1 paper

NM_000489.6

p.C450Y

c.1349G>A

1 paper

NM_000489.6

p.K454R

c.1361A>G

1 paper

NM_000489.6

p.P449delFs

c.1346_1347delAG

2 papers

NM_000489.6

p.K455*

c.1363A>T

1 paper

NM_000489.6

p.K455Q

c.1363A>C