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

2 papers

NM_000489.6

p.K623M

c.1868A>T

Surrounding Variants

1 paper

NM_000489.6

p.K623R

c.1868A>G

1 paper

NM_000489.6

p.P622delFs

c.1864_1865delGG

1 paper

NM_000489.6

p.L624*

c.1871T>G

1 paper

NM_000489.6

p.L624*

c.1871T>A

1 paper

NM_000489.6

p.L620_N621del2

c.1858_1862del6

1 paper

NM_000489.6

p.L620L

c.1858C>T

1 paper

NM_000489.6

p.L620M

c.1858C>A

1 paper

NM_000489.6

p.E625_K626delFs

c.1874_1877del4

1 paper

NM_000489.6

p.G619V

c.1856G>T

1 paper

NM_000489.6

p.G619S

c.1855G>A

1 paper

NM_000489.6

p.G628R

c.1882G>C

1 paper

NM_000489.6

p.G628R

c.1882G>A