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.D751insFs

c.2252dupA

Surrounding Variants

1 paper

NM_000489.6

p.H746_D751del0

c.2237_2251del15

3 papers

NM_000489.6

p.S750del1

c.2248_2249delTGA

2 papers

NM_000489.6

p.S749_S750del1

c.2247_2249delGAA

2 papers

NM_000489.6

p.D753N

c.2257G>A

2 papers

NM_000489.6

p.S750*

c.2249C>G

2 papers

NM_000489.6

p.S750*

c.2249C>A

1 paper

NM_000489.6

p.I754M

c.2262T>G

1 paper

NM_000489.6

p.N755fs

c.2263_2264fs

1 paper

NM_000489.6

p.S748P

c.2242T>C

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.E756*

c.2266G>T