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.H180L

c.539A>T

Surrounding Variants

1 paper

NM_000489.6

p.H180P

c.539A>C

1 paper

NM_000489.6

p.H180D

c.538C>G

1 paper

NM_000489.6

p.H180N

c.538C>A

1 paper

NM_000489.6

p.N179I

c.536A>T

17 papers

NM_000489.6

p.N179S

c.536A>G

2 papers

NM_000489.6

p.Q182*

c.544C>T

1 paper

NM_000489.6

p.V178delFs

c.533delA

1 paper

NM_000489.6

p.V178D

c.533T>A

1 paper

NM_000489.6

p.V178F

c.532G>T

1 paper

NM_000489.6

p.Q177delFs

c.530_531delCT

1 paper

NM_000489.6

p.Q182H

c.546A>T

1 paper

NM_000489.6

p.Q182Q

c.546A>G