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.A39V

c.116C>T

Surrounding Variants

1 paper

NM_000489.6

p.A39P

c.115G>C

1 paper

NM_000489.6

p.M40L

c.118A>T

1 paper

NM_000489.6

p.M40V

c.118A>G

1 paper

NM_000489.6

p.M40L

c.118A>C

1 paper

NM_000489.6

p.L38P

c.113T>C

1 paper

NM_000489.6

p.L38H

c.113T>A

1 paper

NM_000489.6

p.R37fs

c.109_110fs

1 paper

NM_000489.6

p.R37Q

c.110G>A

42 papers

NM_000489.6

p.R37*

c.109C>T

5 papers

NM_000489.6

p.Q42*

c.124C>T

1 paper

NM_000489.6

p.Q42E

c.124C>G

1 paper

NM_000489.6

p.Q42L

c.125A>T