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.Q1877*

c.5629C>T

Surrounding Variants

1 paper

NM_000489.6

p.Q1877R

c.5630A>G

1 paper

NM_000489.6

p.Q1877H

c.5631G>T

1 paper

NM_000489.6

p.Q1877H

c.5631G>C

1 paper

NM_000489.6

p.Q1874_Q1877del4

c.5620_5630del12

1 paper

NM_000489.6

p.M1878I

c.5634G>T

1 paper

NM_000489.6

p.M1878I

c.5634G>C

1 paper

NM_000489.6

p.M1878I

c.5634G>A

1 paper

NM_000489.6

p.L1879V

c.5635T>G

2 papers

NM_000489.6

p.L1879*

c.5636T>G

2 papers

NM_000489.6

p.L1879*

c.5636T>A

2 papers

NM_000489.6

p.Q1874*

c.5620C>T

1 paper

NM_000489.6

p.Q1874fs

c.5620_5621fs