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.C1576S

c.4726T>A

Surrounding Variants

1 paper

NM_000489.6

p.C1576F

c.4727G>T

1 paper

NM_000489.6

p.C1576S

c.4727G>C

1 paper

NM_000489.6

p.C1576Y

c.4727G>A

2 papers

NM_000489.6

p.C1575W

c.4725C>G

1 paper

NM_000489.6

p.C1575Y

c.4724G>A

1 paper

NM_000489.6

p.D1573G

c.4718A>G

1 paper

NM_000489.6

p.V1579fs

c.4735_4736fs

1 paper

NM_000489.6

p.W1572fs

c.4714_4715fs

4 papers

NM_000489.6

p.W1572*

c.4716G>A

1 paper

NM_000489.6

p.W1572L

c.4715G>T

4 papers

NM_000489.6

p.W1572*

c.4715G>A

1 paper

NM_000489.6

p.W1572R

c.4714T>C