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.E1447D

c.4341G>C

Surrounding Variants

1 paper

NM_000489.6

p.E1447D

c.4341G>T

1 paper

NM_000489.6

p.E1447delFs

c.4340_4341delCT

1 paper

NM_000489.6

p.E1448fs

c.4342_4343fs

1 paper

NM_000489.6

p.E1445_E1446del1

c.4335_4337delTCT

1 paper

NM_000489.6

p.K1449E

c.4345A>G

1 paper

NM_000489.6

p.K1449Q

c.4345A>C

1 paper

NM_000489.6

p.E1446insFs

c.4337_4338insTC

1 paper

NM_000489.6

p.E1448del1

c.4342_4343delTTC

1 paper

NM_000489.6

p.E1446K

c.4336G>A

1 paper

NM_000489.6

p.K1449fs

c.4345_4346fs

1 paper

NM_000489.6

p.E1450K

c.4348G>A

1 paper

NM_000489.6

p.K1449delFs

c.4346_4347delTT