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.V469L

c.1405G>T

Surrounding Variants

1 paper

NM_000489.6

p.V469L

c.1405G>C

1 paper

NM_000489.6

p.V469fs

c.1405_1406fs

1 paper

NM_000489.6

p.R466_Q468delFs

c.1396_1403del8

1 paper

NM_000489.6

p.V469fs

c.1405_1406fs

1 paper

NM_000489.6

p.Q468*

c.1402C>T

1 paper

NM_000489.6

p.Q468K

c.1402C>A

1 paper

NM_000489.6

p.I457_K467del11

c.1369_1400del33

1 paper

NM_000489.6

p.V469_D470delFs

c.1405_1408del4

1 paper

NM_000489.6

p.S471fs

c.1411_1412fs

1 paper

NM_000489.6

p.K467*

c.1399A>T

1 paper

NM_000489.6

p.K467fs

c.1399_1400fs

1 paper

NM_000489.6

p.S471N

c.1412G>A