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

2 papers

NM_000489.6

p.R1425fs

c.4273_4274fs

Surrounding Variants

1 paper

NM_000489.6

p.K1423_K1424delFs

c.4269_4272del4

27 papers

NM_000489.6

p.R1426*

c.4276C>T

2 papers

NM_000489.6

p.K1424fs

c.4270_4271fs

3 papers

NM_000489.6

p.R1426Q

c.4277G>A

3 papers

NM_000489.6

p.R1427C

c.4279C>T

1 paper

NM_000489.6

p.Q1421_K1422del2

c.4261_4265del6

1 paper

NM_000489.6

p.R1427H

c.4280G>A

1 paper

NM_000489.6

p.K1422N

c.4266A>C

1 paper

NM_000489.6

p.Q1421_K1422del1

c.4263_4265delTTC

1 paper

NM_000489.6

p.R1427fs

c.4279_4280fs

1 paper

NM_000489.6

p.I1428fs

c.4282_4283fs

1 paper

NM_000489.6

p.K1422*

c.4264A>T