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.N428fs

c.1282_1283fs

Surrounding Variants

2 papers

NM_000489.6

p.K427R

c.1280A>G

1 paper

NM_000489.6

p.E426_K427delFs

c.1278_1279delTC

2 papers

NM_000489.6

p.E426D

c.1278G>T

2 papers

NM_000489.6

p.E426D

c.1278G>C

1 paper

NM_000489.6

p.T429I

c.1286C>T

1 paper

NM_000489.6

p.E426*

c.1276G>T

1 paper

NM_000489.6

p.E426K

c.1276G>A

1 paper

NM_000489.6

p.K425delFs

c.1273_1274delTT

2 papers

NM_000489.6

p.K425fs

c.1273_1274fs

1 paper

NM_000489.6

p.E431*

c.1291G>T

1 paper

NM_000489.6

p.K425Q

c.1273A>C

2 papers

NM_000489.6

p.K425fs

c.1273_1274fs