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

4 papers

NM_000489.6

p.L245P

c.734T>C

Surrounding Variants

1 paper

NM_000489.6

p.L245Q

c.734T>A

2 papers

NM_000489.6

p.L245L

c.733C>T

55 papers

NM_000489.6

p.R246C

c.736C>T

1 paper

NM_000489.6

p.I244N

c.731T>A

9 papers

NM_000489.6

p.R246L

c.737G>T

2 papers

NM_000489.6

p.R246H

c.737G>A

1 paper

NM_000489.6

p.R246R

c.738C>A

1 paper

NM_000489.6

p.I244L

c.730A>C

1 paper

NM_000489.6

p.C243C

c.729C>T

1 paper

NM_000489.6

p.C243W

c.729C>G

3 papers

NM_000489.6

p.N247D

c.739A>G

2 papers

NM_000489.6

p.C243Y

c.728G>A