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.E482K

c.1444G>A

Surrounding Variants

1 paper

NM_000489.6

p.E481D

c.1443G>T

1 paper

NM_000489.6

p.E481D

c.1443G>C

3 papers

NM_000489.6

p.E481*

c.1441G>T

1 paper

NM_000489.6

p.Q483*

c.1447C>T

5 papers

NM_000489.6

p.Q483P

c.1448A>C

1 paper

NM_000489.6

p.T480_E481insFs

c.1440_1441ins35

1 paper

NM_000489.6

p.T480A

c.1438A>G

1 paper

NM_000489.6

p.R484I

c.1451G>T

1 paper

NM_000489.6

p.R484K

c.1451G>A

1 paper

NM_000489.6

p.N477_V478ins0

c.1431_1433dupTGT

1 paper

NM_000489.6

p.P479T

c.1435C>A

1 paper

NM_000489.6

p.T485P

c.1453A>C