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.K242fs

c.724_725fs

Surrounding Variants

1 paper

NM_000489.6

p.K242*

c.724A>T

1 paper

NM_000489.6

p.K241N

c.723G>T

1 paper

NM_000489.6

p.K241insFs

c.722dupA

1 paper

NM_000489.6

p.K241N

c.723G>C

1 paper

NM_000489.6

p.K242fs

c.724_725fs

1 paper

NM_000489.6

p.C243R

c.727T>C

2 papers

NM_000489.6

p.C243Y

c.728G>A

4 papers

NM_000489.6

p.C240F

c.719G>T

1 paper

NM_000489.6

p.C243C

c.729C>T

1 paper

NM_000489.6

p.C243W

c.729C>G

4 papers

NM_000489.6

p.C240G

c.718T>G

1 paper

NM_000489.6

p.I244L

c.730A>C