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

2 papers

NM_000489.6

p.L691fs

c.2071_2072fs

Surrounding Variants

1 paper

NM_000489.6

p.K690insFs

c.2070dupA

1 paper

NM_000489.6

p.K690delFs

c.2069_2070delTT

1 paper

NM_000489.6

p.L691R

c.2072T>G

1 paper

NM_000489.6

p.L691delFs

c.2071delG

1 paper

NM_000489.6

p.K690fs

c.2068_2069fs

1 paper

NM_000489.6

p.K690E

c.2068A>G

2 papers

NM_000489.6

p.K690fs

c.2068_2069fs

2 papers

NM_000489.6

p.S692*

c.2075C>G

2 papers

NM_000489.6

p.S692*

c.2075C>A

1 paper

NM_000489.6

p.Q689*

c.2065C>T

1 paper

NM_000489.6

p.Q689fs

c.2065_2066fs

1 paper

NM_000489.6

p.E687delFs

c.2060_2061delCT