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.E440*

c.1318G>T

Surrounding Variants

1 paper

NM_000489.6

p.F439insFs

c.1317dupT

1 paper

NM_000489.6

p.K438delFs

c.1313delT

2 papers

NM_000489.6

p.T441_K442del1

c.1322_1324delTTG

1 paper

NM_000489.6

p.T441_K442del2

c.1321_1325del6

1 paper

NM_000489.6

p.A443E

c.1328C>A

1 paper

NM_000489.6

p.D436Y

c.1306G>T

8 papers

NM_000489.6

p.R444*

c.1330C>T

2 papers

NM_000489.6

p.I435T

c.1304T>C

1 paper

NM_000489.6

p.I435delFs

c.1303delT

1 paper

NM_000489.6

p.R444R

c.1332A>G

3 papers

NM_000489.6

p.I435V

c.1303A>G

2 papers

NM_000489.6

p.K445E

c.1333A>G