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.R1798fs

c.5392_5393fs

Surrounding Variants

1 paper

NM_000489.6

p.V1797_R1798insFs

c.5391_5392insG

1 paper

NM_000489.6

p.R1798S

c.5394A>T

1 paper

NM_000489.6

p.R1798S

c.5394A>C

1 paper

NM_000489.6

p.R1798fs

c.5392_5393fs

1 paper

NM_000489.6

p.S1792_V1799del0

c.5375_5395del21

1 paper

NM_000489.6

p.D1796H

c.5386G>C

1 paper

NM_000489.6

p.D1796N

c.5386G>A

3 papers

NM_000489.6

p.M1800T

c.5399T>C

1 paper

NM_000489.6

p.M1800K

c.5399T>A

1 paper

NM_000489.6

p.M1800I

c.5400G>T

1 paper

NM_000489.6

p.M1800I

c.5400G>C

1 paper

NM_000489.6

p.M1800I

c.5400G>A