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

3 papers

NM_000489.6

p.R1302insFs

c.3904dupA

Surrounding Variants

1 paper

NM_000489.6

p.R1302I

c.3905G>T

11 papers

NM_000489.6

p.R1302delFs

c.3904delT

18 papers

NM_000489.6

p.R1302fs

c.3904_3905fs

5 papers

NM_000489.6

p.R1302fs

c.3904_3905fs

1 paper

NM_000489.6

p.T1303fs

c.3907_3908fs

1 paper

NM_000489.6

p.K1301*

c.3901A>T

1 paper

NM_000489.6

p.K1300fs

c.3898_3899fs

1 paper

NM_000489.6

p.G1299fs

c.3895_3896fs

1 paper

NM_000489.6

p.K1305fs

c.3913_3914fs

1 paper

NM_000489.6

p.E1298D

c.3894A>T

1 paper

NM_000489.6

p.E1298D

c.3894A>C

2 papers

NM_000489.6

p.E1298*

c.3892G>T