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.N247K

c.741C>A

Surrounding Variants

1 paper

NM_000489.6

p.N247K

c.741C>G

2 papers

NM_000489.6

p.L248F

c.742C>T

2 papers

NM_000489.6

p.N247S

c.740A>G

1 paper

NM_000489.6

p.L248ins1

c.743_744insCAA

3 papers

NM_000489.6

p.N247D

c.739A>G

1 paper

NM_000489.6

p.L248fs

c.742_743fs

1 paper

NM_000489.6

p.R246R

c.738C>A

9 papers

NM_000489.6

p.G249C

c.745G>T

9 papers

NM_000489.6

p.R246L

c.737G>T

2 papers

NM_000489.6

p.G249S

c.745G>A

2 papers

NM_000489.6

p.R246H

c.737G>A

1 paper

NM_000489.6

p.L248delFs

c.744delA