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

6 papers

NM_006015.6

p.Y2254*

c.6762C>G

Surrounding Variants

6 papers

NM_006015.6

p.Y2254*

c.6762C>A

3 papers

NM_006015.6

p.E2255K

c.6763G>A

5 papers

NM_006015.6

p.E2255*

c.6763G>T

2 papers

NM_006015.6

p.Y2254fs

c.6760_6761fs

7 papers

NM_006015.6

p.S2256*

c.6767C>A

1 paper

NM_006015.6

p.L2253fs

c.6757_6758fs

7 papers

NM_006015.6

p.S2256*

c.6767C>G

1 paper

NM_006015.6

p.S2256L

c.6767C>T

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.L2258_V2263delFs

c.6772_6787del16

2 papers

NM_006015.6

p.R2257W

c.6769C>T