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.R1417Q

c.4250G>A

Surrounding Variants

1 paper

NM_000489.6

p.Q1416fs

c.4246_4247fs

1 paper

NM_000489.6

p.Q1416delFs

c.4246delG

1 paper

NM_000489.6

p.Q1416fs

c.4246_4247fs

2 papers

NM_000489.6

p.Q1416*

c.4246C>T

1 paper

NM_000489.6

p.N1415S

c.4244A>G

1 paper

NM_000489.6

p.N1415fs

c.4243_4244fs

1 paper

NM_000489.6

p.K1420*

c.4258A>T

1 paper

NM_000489.6

p.K1420fs

c.4258_4259fs

1 paper

NM_000489.6

p.E1414A

c.4241A>C

1 paper

NM_000489.6

p.K1420ins1

c.4259_4260insGGA

1 paper

NM_000489.6

p.Q1416_K1420del0

c.4248_4259del12

1 paper

NM_000489.6

p.Q1421*

c.4261C>T