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

2 papers

NM_000489.6

p.E680G

c.2039A>G

Surrounding Variants

1 paper

NM_000489.6

p.E680delFs

c.2038delC

1 paper

NM_000489.6

p.E680*

c.2038G>T

1 paper

NM_000489.6

p.E680fs

c.2038_2039fs

1 paper

NM_000489.6

p.C681fs

c.2041_2042fs

1 paper

NM_000489.6

p.C681Y

c.2042G>A

1 paper

NM_000489.6

p.C681delFs

c.2041delA

1 paper

NM_000489.6

p.D678_E679delFs

c.2034_2035delCA

2 papers

NM_000489.6

p.E679*

c.2035G>T

1 paper

NM_000489.6

p.E679insFs

c.2035_2036ins5

1 paper

NM_000489.6

p.E679K

c.2035G>A

1 paper

NM_000489.6

p.N682Y

c.2044A>T

1 paper

NM_000489.6

p.N682D

c.2044A>G