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.L2395S

c.7184T>C

Surrounding Variants

1 paper

NM_000489.6

p.Y2391_L2395delFs

c.7173_7183del11

1 paper

NM_000489.6

p.L2395_T2396insFs

c.7185_7186insA

1 paper

NM_000489.6

p.Q2398*

c.7192C>T

1 paper

NM_000489.6

p.Q2399*

c.7195C>T

1 paper

NM_000489.6

p.Q2399insFs

c.7195_7196ins11

1 paper

NM_000489.6

p.Q2399H

c.7197G>T

1 paper

NM_000489.6

p.Q2399H

c.7197G>C

1 paper

NM_000489.6

p.M2400fs

c.7198_7199fs

1 paper

NM_000489.6

p.I2390insFs

c.7168_7169ins4

2 papers

NM_000489.6

p.M2400_L2401Splc

c.7200+4A>G

1 paper

NM_000489.6

p.E2388insFs

c.7163_7164ins5

4 papers

NM_000489.6

p.E2388*

c.7162G>T