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.I383insFs

c.1147dupA

Surrounding Variants

1 paper

NM_000489.6

p.I383N

c.1148T>A

1 paper

NM_000489.6

p.I383fs

c.1147_1148fs

1 paper

NM_000489.6

p.I383fs

c.1147_1148fs

1 paper

NM_000489.6

p.S384fs

c.1150_1151fs

1 paper

NM_000489.6

p.S384C

c.1150A>T

1 paper

NM_000489.6

p.S381fs

c.1141_1142fs

2 papers

NM_000489.6

p.S381L

c.1142C>T

3 papers

NM_000489.6

p.S381*

c.1142C>G

3 papers

NM_000489.6

p.S381*

c.1142C>A

1 paper

NM_000489.6

p.S381fs

c.1141_1142fs

1 paper

NM_000489.6

p.N380I

c.1139A>T

1 paper

NM_000489.6

p.A386fs

c.1156_1157fs