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.R1739Q

c.5216G>A

Surrounding Variants

15 papers

NM_000489.6

p.R1739*

c.5215C>T

1 paper

NM_000489.6

p.R1739delFs

c.5216delC

2 papers

NM_000489.6

p.R1739fs

c.5215_5216fs

2 papers

NM_000489.6

p.S1740*

c.5219C>G

2 papers

NM_000489.6

p.S1740*

c.5219C>A

1 paper

NM_000489.6

p.I1738V

c.5212A>G

1 paper

NM_000489.6

p.R1741insFs

c.5221_5222ins28

1 paper

NM_000489.6

p.S1737C

c.5210C>G

1 paper

NM_000489.6

p.R1742G

c.5224A>G

1 paper

NM_000489.6

p.R1742M

c.5225G>T

1 paper

NM_000489.6

p.R1742T

c.5225G>C

4 papers

NM_000489.6

p.R1742K

c.5225G>A