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

4 papers

NM_006015.6

p.T286I

c.857C>T

Surrounding Variants

1 paper

NM_006015.6

p.T286S

c.857C>G

2 papers

NM_006015.6

p.T286fs

c.856_857fs

1 paper

NM_006015.6

p.T286P

c.856A>C

1 paper

NM_006015.6

p.P287_T292delFs

c.859_875del17

1 paper

NM_006015.6

p.G285G

c.855A>G

1 paper

NM_006015.6

p.T286_Q288del3

c.856_863del9

1 paper

NM_006015.6

p.P287fs

c.859_860fs

4 papers

NM_006015.6

p.P287S

c.859C>T

1 paper

NM_006015.6

p.P287H

c.860C>A

1 paper

NM_006015.6

p.G285E

c.854G>A

1 paper

NM_006015.6

p.Q288delFs

c.862_863delCA

1 paper

NM_006015.6

p.Q288_T292delFs

c.863_875del13