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.K768fs

c.2302_2303fs

Surrounding Variants

1 paper

NM_000489.6

p.K768N

c.2304G>T

1 paper

NM_000489.6

p.K768insFs

c.2303dupA

1 paper

NM_000489.6

p.K768N

c.2304G>C

1 paper

NM_000489.6

p.K768R

c.2303A>G

1 paper

NM_000489.6

p.T769I

c.2306C>T

1 paper

NM_000489.6

p.K768E

c.2302A>G

1 paper

NM_000489.6

p.L767*

c.2300T>G

1 paper

NM_000489.6

p.L767*

c.2300T>A

5 papers

NM_000489.6

p.Q770*

c.2308C>T

1 paper

NM_000489.6

p.Q770E

c.2308C>G

1 paper

NM_000489.6

p.L767L

c.2299T>C

1 paper

NM_000489.6

p.D766insFs

c.2297dupA