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.E2381K

c.7141G>A

Surrounding Variants

1 paper

NM_000489.6

p.E2381*

c.7141G>T

1 paper

NM_000489.6

p.A2378_E2381delFs

c.7132_7141del10

1 paper

NM_000489.6

p.D2383H

c.7147G>C

1 paper

NM_000489.6

p.Q2377insFs

c.7130_7131insT

1 paper

NM_000489.6

p.Q2377fs

c.7129_7130fs

20 papers

NM_000489.6

p.R2386*

c.7156C>T

1 paper

NM_000489.6

p.R2376*

c.7126A>T

1 paper

NM_000489.6

p.R2386Q

c.7157G>A

1 paper

NM_000489.6

p.R2387G

c.7159A>G

1 paper

NM_000489.6

p.L2372_L2374del0

c.7115_7120del6

1 paper

NM_000489.6

p.L2382_R2387del0

c.7146_7160del15

4 papers

NM_000489.6

p.E2388*

c.7162G>T