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.R1743M

c.5228G>T

Surrounding Variants

1 paper

NM_000489.6

p.R1743S

c.5229G>T

1 paper

NM_000489.6

p.R1743S

c.5229G>C

1 paper

NM_000489.6

p.R1743fs

c.5227_5228fs

2 papers

NM_000489.6

p.R1743del1

c.5227_5228delCCT

1 paper

NM_000489.6

p.R1742M

c.5225G>T

1 paper

NM_000489.6

p.R1742T

c.5225G>C

4 papers

NM_000489.6

p.R1742K

c.5225G>A

1 paper

NM_000489.6

p.R1742G

c.5224A>G

1 paper

NM_000489.6

p.R1741insFs

c.5221_5222ins28

3 papers

NM_000489.6

p.L1746*

c.5237T>G

3 papers

NM_000489.6

p.L1746S

c.5237T>C

3 papers

NM_000489.6

p.L1746*

c.5237T>A