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.N1467delFs

c.4400delT

Surrounding Variants

1 paper

NM_000489.6

p.N1467fs

c.4399_4400fs

2 papers

NM_000489.6

p.E1466*

c.4396G>T

1 paper

NM_000489.6

p.D1469E

c.4407T>G

1 paper

NM_000489.6

p.D1469E

c.4407T>A

17 papers

NM_000489.6

p.E1464del1

c.4390_4391delTTC

1 paper

NM_000489.6

p.S1470F

c.4409C>T

1 paper

NM_000489.6

p.E1458_E1464del0

c.4374_4391del18

1 paper

NM_000489.6

p.E1462delFs

c.4385_4386delCT

1 paper

NM_000489.6

p.E1462fs

c.4384_4385fs

1 paper

NM_000489.6

p.E1460del1

c.4378_4379delTTC

1 paper

NM_000489.6

p.E1461K

c.4381G>A

1 paper

NM_000489.6

p.E1460D

c.4380A>T