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.T2252fs

c.6754_6755fs

Surrounding Variants

1 paper

NM_006015.6

p.L2253fs

c.6757_6758fs

2 papers

NM_006015.6

p.L2253_Y2254delFs

c.6759_6760delGT

1 paper

NM_006015.6

p.L2253fs

c.6757_6758fs

1 paper

NM_006015.6

p.F2251V

c.6751T>G

8 papers

NM_006015.6

p.E2250fs

c.6748_6749fs

11 papers

NM_006015.6

p.E2250fs

c.6748_6749fs

1 paper

NM_006015.6

p.E2250_T2252delFs

c.6750_6754del5

2 papers

NM_006015.6

p.Y2254fs

c.6760_6761fs

1 paper

NM_006015.6

p.E2250_L2253delFs

c.6748_6758del11

7 papers

NM_006015.6

p.S2249*

c.6746C>A

6 papers

NM_006015.6

p.Y2254*

c.6762C>A

10 papers

NM_006015.6

p.S2249insFs

c.6747dupA