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

16 papers

NM_000489.6

p.R1803H

c.5408G>A

Surrounding Variants

1 paper

NM_000489.6

p.R1803L

c.5408G>T

1 paper

NM_000489.6

p.R1803P

c.5408G>C

2 papers

NM_000489.6

p.R1803fs

c.5407_5408fs

1 paper

NM_000489.6

p.R1803fs

c.5407_5408fs

2 papers

NM_000489.6

p.R1803C

c.5407C>T

3 papers

NM_000489.6

p.K1802insFs

c.5406dupA

2 papers

NM_000489.6

p.K1802delFs

c.5406delT

1 paper

NM_000489.6

p.K1801_K1802del1

c.5403_5405delTTT

2 papers

NM_000489.6

p.A1804P

c.5410G>C

3 papers

NM_000489.6

p.K1802fs

c.5404_5405fs

1 paper

NM_000489.6

p.A1804V

c.5411C>T

1 paper

NM_000489.6

p.K1802T

c.5405A>C