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.S656F

c.1967C>T

Surrounding Variants

1 paper

NM_000489.6

p.S656Y

c.1967C>A

1 paper

NM_000489.6

p.R655delFs

c.1965delT

1 paper

NM_000489.6

p.P657T

c.1969C>A

1 paper

NM_000489.6

p.R654_R655delFs

c.1962_1963delTT

1 paper

NM_000489.6

p.R655*

c.1963A>T

2 papers

NM_000489.6

p.R655fs

c.1963_1964fs

1 paper

NM_000489.6

p.R658fs

c.1972_1973fs

2 papers

NM_000489.6

p.R658C

c.1972C>T

2 papers

NM_000489.6

p.R654Q

c.1961G>A

5 papers

NM_000489.6

p.R654*

c.1960C>T

1 paper

NM_000489.6

p.R654G

c.1960C>G

1 paper

NM_000489.6

p.L653P

c.1958T>C