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.T387_K388insC

c.1159_1163ins3

Surrounding Variants

2 papers

NM_000489.6

p.T387A

c.1159A>G

1 paper

NM_000489.6

p.A386fs

c.1156_1157fs

1 paper

NM_000489.6

p.T387insFs

c.1159dupA

1 paper

NM_000489.6

p.K388Q

c.1162A>C

2 papers

NM_000489.6

p.L389*

c.1166T>G

2 papers

NM_000489.6

p.L389*

c.1166T>A

1 paper

NM_000489.6

p.S384fs

c.1150_1151fs

2 papers

NM_000489.6

p.R390_Q391insA

c.1168_1172ins3

1 paper

NM_000489.6

p.S384C

c.1150A>T

2 papers

NM_000489.6

p.R390H

c.1169G>A

1 paper

NM_000489.6

p.I383fs

c.1147_1148fs

1 paper

NM_000489.6

p.I383insFs

c.1147dupA