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.K251R

c.752A>G

Surrounding Variants

1 paper

NM_000489.6

p.K251N

c.753G>T

1 paper

NM_000489.6

p.K251N

c.753G>C

1 paper

NM_000489.6

p.K251K

c.753G>A

1 paper

NM_000489.6

p.K251E

c.751A>G

1 paper

NM_000489.6

p.E252*

c.754G>T

3 papers

NM_000489.6

p.R250Q

c.749G>A

1 paper

NM_000489.6

p.R250delFs

c.748delG

11 papers

NM_000489.6

p.R250*

c.748C>T

4 papers

NM_000489.6

p.L253S

c.758T>C

1 paper

NM_000489.6

p.L253*

c.758T>A

1 paper

NM_000489.6

p.G249A

c.746G>C

7 papers

NM_000489.6

p.G249D

c.746G>A