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.A1282V

c.3845C>T

Surrounding Variants

1 paper

NM_000489.6

p.M1275_I1280delFs

c.3824_3840del17

1 paper

NM_000489.6

p.I1280V

c.3838A>G

1 paper

NM_000489.6

p.E1278_E1279del2

c.3832_3836del6

1 paper

NM_000489.6

p.S1285fs

c.3853_3854fs

1 paper

NM_000489.6

p.E1279E

c.3837A>G

1 paper

NM_000489.6

p.S1285delFs

c.3853delA

3 papers

NM_000489.6

p.E1279*

c.3835G>T

2 papers

NM_000489.6

p.E1279Q

c.3835G>C

1 paper

NM_000489.6

p.E1279K

c.3835G>A

1 paper

NM_000489.6

p.S1285fs

c.3853_3854fs

1 paper

NM_000489.6

p.S1285delFs

c.3855delG

1 paper

NM_000489.6

p.S1286fs

c.3856_3857fs