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

3 papers

NM_000489.6

p.L1746S

c.5237T>C

Surrounding Variants

3 papers

NM_000489.6

p.L1746*

c.5237T>G

3 papers

NM_000489.6

p.L1746*

c.5237T>A

1 paper

NM_000489.6

p.T1747I

c.5240C>T

2 papers

NM_000489.6

p.T1747K

c.5240C>A

1 paper

NM_000489.6

p.T1747delFs

c.5239delT

1 paper

NM_000489.6

p.T1747fs

c.5239_5240fs

3 papers

NM_000489.6

p.G1748R

c.5242G>C

3 papers

NM_000489.6

p.G1748R

c.5242G>A

2 papers

NM_000489.6

p.R1743del1

c.5227_5228delCCT

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.R1743_G1748delFs

c.5228_5244del17