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.G1856Splc

c.5567-2A>G

Surrounding Variants

1 paper

NM_000489.6

p.G1856Splc

c.5567-3C>G

1 paper

NM_000489.6

p.G1858D

c.5573G>A

4 papers

NM_000489.6

p.N1859S

c.5576A>G

1 paper

NM_000489.6

p.N1859fs

c.5575_5576fs

19 papers

NM_000489.6

p.N1860S

c.5579A>G

NM_138270.5

p.N1822S

c.5465A>G

1 paper

NM_000489.6

p.E1862fs

c.5584_5585fs

1 paper

NM_000489.6

p.R1865K

c.5594G>A

1 paper

NM_000489.6

p.G1866R

c.5596G>C

1 paper

NM_000489.6

p.G1866R

c.5596G>A

1 paper

NM_000489.6

p.G1866E

c.5597G>A

1 paper

NM_000489.6

p.K1867*

c.5599A>T

1 paper

NM_000489.6

p.G1864_R1865del2

c.5590_5594del6