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.H189fs

c.565_566fs

Surrounding Variants

2 papers

NM_000489.6

p.H189D

c.565C>G

4 papers

NM_000489.6

p.H189N

c.565C>A

1 paper

NM_000489.6

p.H189R

c.566A>G

1 paper

NM_000489.6

p.H189delFs

c.565delG

1 paper

NM_000489.6

p.R188T

c.563G>C

3 papers

NM_000489.6

p.R188K

c.563G>A

1 paper

NM_000489.6

p.H189Q

c.567C>G

1 paper

NM_000489.6

p.H189Q

c.567C>A

6 papers

NM_000489.6

p.P190S

c.568C>T

4 papers

NM_000489.6

p.P190A

c.568C>G

3 papers

NM_000489.6

p.R188*

c.562A>T

1 paper

NM_000489.6

p.R188fs

c.562_563fs