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.A162fs

c.484_485fs

Surrounding Variants

2 papers

NM_006015.6

p.A162T

c.484G>A

1 paper

NM_006015.6

p.A162_A164delFs

c.486_492del7

1 paper

NM_006015.6

p.V161_A162insFs

c.483_484insT

2 papers

NM_006015.6

p.A162delFs

c.484delG

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

3 papers

NM_006015.6

p.V161A

c.482T>C

4 papers

NM_006015.6

p.V161ins1

c.482_483insCGC

2 papers

NM_006015.6

p.A163_A165ins1

c.489_494dup6

2 papers

NM_006015.6

p.A164_A165del1

c.492_494delCGC

4 papers

NM_006015.6

p.V161_A163del0

c.483_488del6