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.L273fs

c.817_818fs

Surrounding Variants

1 paper

NM_000489.6

p.L273insFs

c.818_819insAG

1 paper

NM_000489.6

p.L273fs

c.817_818fs

1 paper

NM_000489.6

p.P272L

c.815C>T

1 paper

NM_000489.6

p.E271delFs

c.811_812delTC

1 paper

NM_000489.6

p.L274*

c.821T>A

1 paper

NM_000489.6

p.E271*

c.811G>T

1 paper

NM_000489.6

p.D275N

c.823G>A

1 paper

NM_000489.6

p.P270L

c.809C>T

1 paper

NM_000489.6

p.L276S

c.827T>C

1 paper

NM_000489.6

p.L276*

c.827T>A

1 paper

NM_000489.6

p.V277L

c.829G>C

1 paper

NM_000489.6

p.C268delFs

c.803_804delAC