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.L646delFs

c.1937_1938delTA

Surrounding Variants

1 paper

NM_000489.6

p.E643_L646del4

c.1927_1937del12

1 paper

NM_000489.6

p.L647R

c.1940T>G

1 paper

NM_000489.6

p.S645_L646delFs

c.1934_1937del4

1 paper

NM_000489.6

p.L646V

c.1936T>G

3 papers

NM_000489.6

p.L648S

c.1943T>C

1 paper

NM_000489.6

p.S645fs

c.1933_1934fs

1 paper

NM_000489.6

p.S645L

c.1934C>T

1 paper

NM_000489.6

p.S645*

c.1934C>G

1 paper

NM_000489.6

p.S645*

c.1934C>A

2 papers

NM_000489.6

p.E643_S645delFs

c.1929_1933del5

1 paper

NM_000489.6

p.S645P

c.1933T>C

2 papers

NM_000489.6

p.E649Q

c.1945G>C