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.E1298D

c.3894A>C

Surrounding Variants

1 paper

NM_000489.6

p.E1298D

c.3894A>T

2 papers

NM_000489.6

p.E1298*

c.3892G>T

1 paper

NM_000489.6

p.G1299fs

c.3895_3896fs

1 paper

NM_000489.6

p.K1300fs

c.3898_3899fs

1 paper

NM_000489.6

p.E1297*

c.3889G>T

1 paper

NM_000489.6

p.E1297K

c.3889G>A

1 paper

NM_000489.6

p.K1301*

c.3901A>T

1 paper

NM_000489.6

p.P1296S

c.3886C>T

1 paper

NM_000489.6

p.E1295_P1296insFs

c.3885_3886insT

1 paper

NM_000489.6

p.E1295fs

c.3883_3884fs

1 paper

NM_000489.6

p.E1295insFs

c.3884_3885insT

5 papers

NM_000489.6

p.R1302fs

c.3904_3905fs