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.M1800I

c.5400G>T

Surrounding Variants

1 paper

NM_000489.6

p.M1800I

c.5400G>C

1 paper

NM_000489.6

p.M1800I

c.5400G>A

3 papers

NM_000489.6

p.M1800T

c.5399T>C

1 paper

NM_000489.6

p.M1800K

c.5399T>A

2 papers

NM_000489.6

p.K1801E

c.5401A>G

1 paper

NM_000489.6

p.S1792_V1799del0

c.5375_5395del21

1 paper

NM_000489.6

p.K1802fs

c.5404_5405fs

1 paper

NM_000489.6

p.K1802T

c.5405A>C

1 paper

NM_000489.6

p.R1798S

c.5394A>T

1 paper

NM_000489.6

p.R1798S

c.5394A>C

3 papers

NM_000489.6

p.K1802fs

c.5404_5405fs

1 paper

NM_000489.6

p.R1798fs

c.5392_5393fs