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.S1772_I1773delins

c.5316_5317delinsTT

Surrounding Variants

1 paper

NM_000489.6

p.S1772insFs

c.5316dupC

1 paper

NM_000489.6

p.G1771_S1772delFs

c.5312_5316del5

2 papers

NM_000489.6

p.I1773fs

c.5317_5318fs

1 paper

NM_000489.6

p.L1770R

c.5309T>G

1 paper

NM_000489.6

p.F1776S

c.5327T>C

1 paper

NM_000489.6

p.R1777K

c.5330G>A

1 paper

NM_000489.6

p.E1767Q

c.5299G>C

1 paper

NM_000489.6

p.K1766K

c.5298G>A

1 paper

NM_000489.6

p.F1780L

c.5338T>C

1 paper

NM_000489.6

p.K1766fs

c.5296_5297fs

1 paper

NM_000489.6

p.I1765M

c.5295C>G

1 paper

NM_000489.6

p.F1780L

c.5340T>G