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.D635V

c.1904A>T

Surrounding Variants

1 paper

NM_000489.6

p.D635_N636delFs

c.1903_1907del5

1 paper

NM_000489.6

p.S634_N636delFs

c.1900_1907del8

1 paper

NM_000489.6

p.S634_N636del3

c.1900_1907del9

1 paper

NM_000489.6

p.E637D

c.1911G>T

1 paper

NM_000489.6

p.E637D

c.1911G>C

1 paper

NM_000489.6

p.Q631_H638delFs

c.1893_1914del22

1 paper

NM_000489.6

p.L639fs

c.1915_1916fs

1 paper

NM_000489.6

p.Q631*

c.1891C>T

1 paper

NM_000489.6

p.G630fs

c.1888_1889fs

1 paper

NM_000489.6

p.D635_V640del0

c.1904_1918del15

1 paper

NM_000489.6

p.G630E

c.1889G>A

3 papers

NM_000489.6

p.G630*

c.1888G>T