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.P5P

c.15C>G

Surrounding Variants

2 papers

NM_000489.6

p.P5P

c.15C>T

2 papers

NM_000489.6

p.P5P

c.15C>A

1 paper

NM_000489.6

p.M6V

c.16A>G

1 paper

NM_000489.6

p.P5_M6del1

c.14_16delTGG

1 paper

NM_000489.6

p.M6fs

c.16_17fs

9 papers

NM_000489.6

p.E4D

c.12G>C

2 papers

NM_000489.6

p.E4E

c.12G>A

3 papers

NM_000489.6

p.S7fs

c.19_20fs

1 paper

NM_000489.6

p.A3del1

c.7_8delAGC

1 paper

NM_000489.6

p.S7insFs

c.20_21insA

1 paper

NM_000489.6

p.E4Q

c.10G>C

1 paper

NM_000489.6

p.A3fs

c.7_8fs