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.T759A

c.2275A>G

Surrounding Variants

1 paper

NM_000489.6

p.H761fs

c.2281_2282fs

1 paper

NM_000489.6

p.E756A

c.2267A>C

1 paper

NM_000489.6

p.E756*

c.2266G>T

1 paper

NM_000489.6

p.K762*

c.2284A>T

1 paper

NM_000489.6

p.H761insFs

c.2283dupT

5 papers

NM_000489.6

p.N755K

c.2265T>G

5 papers

NM_000489.6

p.N755K

c.2265T>A

1 paper

NM_000489.6

p.K762N

c.2286G>T

1 paper

NM_000489.6

p.K762N

c.2286G>C

1 paper

NM_000489.6

p.T763fs

c.2287_2288fs

1 paper

NM_000489.6

p.N755fs

c.2263_2264fs

1 paper

NM_000489.6

p.T763A

c.2287A>G