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.K1274*

c.3820A>T

Surrounding Variants

1 paper

NM_000489.6

p.K1273N

c.3819G>T

1 paper

NM_000489.6

p.K1273N

c.3819G>C

1 paper

NM_000489.6

p.A1272A

c.3816C>T

2 papers

NM_000489.6

p.A1272P

c.3814G>C

1 paper

NM_000489.6

p.I1271fs

c.3811_3812fs

1 paper

NM_000489.6

p.L1276R

c.3827T>G

1 paper

NM_000489.6

p.L1276P

c.3827T>C

1 paper

NM_000489.6

p.R1270S

c.3810A>T

1 paper

NM_000489.6

p.R1270S

c.3810A>C

2 papers

NM_000489.6

p.R1270Splc

c.3810-1G>T

1 paper

NM_000489.6

p.L1277delFs

c.3830delA

3 papers

NM_000489.6

p.R1270Splc

c.3810-2A>G