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.R743_M744insCAA

c.2227_2231ins9

Surrounding Variants

1 paper

NM_000489.6

p.S742delFs

c.2225_2226delGC

1 paper

NM_000489.6

p.R743fs

c.2227_2228fs

1 paper

NM_000489.6

p.S742T

c.2225G>C

1 paper

NM_000489.6

p.S742G

c.2224A>G

1 paper

NM_000489.6

p.E740_V741delins

c.2220_2221delinsTT

1 paper

NM_000489.6

p.E740fs

c.2218_2219fs

1 paper

NM_000489.6

p.S745N

c.2234G>A

1 paper

NM_000489.6

p.E740*

c.2218G>T

1 paper

NM_000489.6

p.E740K

c.2218G>A

1 paper

NM_000489.6

p.K739delFs

c.2216_2217delTT

2 papers

NM_000489.6

p.K739fs

c.2215_2216fs

1 paper

NM_000489.6

p.K739*

c.2215A>T