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.E285V

c.854A>T

Surrounding Variants

3 papers

NM_000489.6

p.E285*

c.853G>T

1 paper

NM_000489.6

p.E285Q

c.853G>C

1 paper

NM_000489.6

p.F284Y

c.851T>A

1 paper

NM_000489.6

p.N286I

c.857A>T

1 paper

NM_000489.6

p.F284fs

c.850_851fs

3 papers

NM_000489.6

p.L287*

c.860T>G

6 papers

NM_000489.6

p.V283A

c.848T>C

3 papers

NM_000489.6

p.L287*

c.860T>A

2 papers

NM_000489.6

p.V283I

c.847G>A

1 paper

NM_000489.6

p.L287L

c.861A>G

1 paper

NM_000489.6

p.E288*

c.862G>T

1 paper

NM_000489.6

p.E288_Q289insC

c.862_866ins3