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.S558R

c.1674T>A

Surrounding Variants

1 paper

NM_000489.6

p.S558R

c.1674T>G

1 paper

NM_000489.6

p.S559L

c.1676C>T

1 paper

NM_000489.6

p.S559*

c.1676C>G

1 paper

NM_000489.6

p.S559*

c.1676C>A

1 paper

NM_000489.6

p.S558R

c.1672A>C

1 paper

NM_000489.6

p.E557D

c.1671G>T

1 paper

NM_000489.6

p.E557D

c.1671G>C

1 paper

NM_000489.6

p.S559fs

c.1675_1676fs

1 paper

NM_000489.6

p.V556_S559delFs

c.1666_1676del11

1 paper

NM_000489.6

p.E557K

c.1669G>A

1 paper

NM_000489.6

p.E555_V556delFs

c.1665_1668del4

1 paper

NM_000489.6

p.S560F

c.1679C>T