Varaico: Literature-Extracted Genetic Variants

ARID1A

2,994 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure aroun...

Pfam Domains

ARIDaa 1019–1104UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 1976–2231UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1A

HGNC Previous Symbols

C1orf4; SMARCF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006015.6

p.N296del1

c.886_887delAAC

Surrounding Variants

2 papers

NM_006015.6

p.L295_N296delFs

c.885_888del4

1 paper

NM_006015.6

p.L295insFs

c.883_884ins4

1 paper

NM_006015.6

p.L295F

c.883C>T

1 paper

NM_006015.6

p.N296fs

c.886_887fs

1 paper

NM_006015.6

p.L295insFs

c.883dupC

4 papers

NM_006015.6

p.T294fs

c.880_881fs

4 papers

NM_006015.6

p.T294P

c.880A>C

1 paper

NM_006015.6

p.T294Fs

c.880delinsCACFs

4 papers

NM_006015.6

p.T294fs

c.880_881fs

1 paper

NM_006015.6

p.N296K

c.888C>A

1 paper

NM_006015.6

p.N296K

c.888C>G

2 papers

NM_006015.6

p.Q297fs

c.889_890fs