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.K1871T

c.5612A>C

Surrounding Variants

1 paper

NM_000489.6

p.K1871fs

c.5611_5612fs

1 paper

NM_000489.6

p.N1859_A1868delFs

c.5576_5604del29

2 papers

NM_000489.6

p.F1873fs

c.5617_5618fs

1 paper

NM_000489.6

p.F1873delFs

c.5618delA

2 papers

NM_000489.6

p.Q1874*

c.5620C>T

1 paper

NM_000489.6

p.Q1874fs

c.5620_5621fs

1 paper

NM_000489.6

p.A1868P

c.5602G>C

1 paper

NM_000489.6

p.A1868T

c.5602G>A

1 paper

NM_000489.6

p.K1867N

c.5601G>T

1 paper

NM_000489.6

p.K1867N

c.5601G>C

1 paper

NM_000489.6

p.G1864_R1865del2

c.5590_5594del6

1 paper

NM_000489.6

p.K1867*

c.5599A>T