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.H406R

c.1217A>G

Surrounding Variants

1 paper

NM_000489.6

p.H406Y

c.1216C>T

5 papers

NM_000489.6

p.L407F

c.1219C>T

1 paper

NM_000489.6

p.L407V

c.1219C>G

1 paper

NM_000489.6

p.A405T

c.1213G>A

1 paper

NM_000489.6

p.K404N

c.1212G>T

1 paper

NM_000489.6

p.K404N

c.1212G>C

1 paper

NM_000489.6

p.A408insFs

c.1222dupG

1 paper

NM_000489.6

p.A408E

c.1223C>A

1 paper

NM_000489.6

p.K404*

c.1210A>T

1 paper

NM_000489.6

p.A408_L409insFs

c.1224_1225insG

1 paper

NM_000489.6

p.A408fs

c.1222_1223fs

1 paper

NM_000489.6

p.K403delFs

c.1209delC