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

3 papers

NM_000489.6

p.N1753S

c.5258A>G

Surrounding Variants

1 paper

NM_000489.6

p.Q1752H

c.5256A>T

1 paper

NM_000489.6

p.Q1752H

c.5256A>C

1 paper

NM_000489.6

p.Q1752*

c.5254C>T

2 papers

NM_000489.6

p.N1754K

c.5262C>G

2 papers

NM_000489.6

p.N1754K

c.5262C>A

1 paper

NM_000489.6

p.N1754delFs

c.5260delT

2 papers

NM_000489.6

p.L1755V

c.5263C>G

1 paper

NM_000489.6

p.L1751fs

c.5251_5252fs

1 paper

NM_000489.6

p.I1756insFs

c.5267_5268insC

1 paper

NM_000489.6

p.I1756S

c.5267T>G

1 paper

NM_000489.6

p.I1756N

c.5267T>A

2 papers

NM_000489.6

p.P1750L

c.5249C>T