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.A164_A165del2

c.490_494del6

Surrounding Variants

1 paper

NM_006015.6

p.A163insFs

c.488_489insA

3 papers

NM_006015.6

p.A163V

c.488C>T

1 paper

NM_006015.6

p.A164_A166delFs

c.490_497del8

2 papers

NM_006015.6

p.A164T

c.490G>A

1 paper

NM_006015.6

p.A164G

c.491C>G

3 papers

NM_006015.6

p.A164V

c.491C>T

4 papers

NM_006015.6

p.A163T

c.487G>A

1 paper

NM_006015.6

p.A163fs

c.487_488fs

1 paper

NM_006015.6

p.A163fs

c.487_488fs

1 paper

NM_006015.6

p.A162A

c.486C>G

1 paper

NM_006015.6

p.A162A

c.486C>T

1 paper

NM_006015.6

p.A165_V168del0

c.494_502del9