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.S2096L

c.6287C>T

Surrounding Variants

2 papers

NM_006015.6

p.S2096*

c.6287C>A

2 papers

NM_006015.6

p.S2096*

c.6287C>G

1 paper

NM_006015.6

p.A2097Fs

c.6289_6290delinsAFs

1 paper

NM_006015.6

p.A2097fs

c.6289_6290fs

1 paper

NM_006015.6

p.P2095H

c.6284C>A

2 papers

NM_006015.6

p.P2095insFs

c.6285dupT

1 paper

NM_006015.6

p.P2095L

c.6284C>T

2 papers

NM_006015.6

p.P2095fs

c.6283_6284fs

1 paper

NM_006015.6

p.C2094*

c.6282C>A

1 paper

NM_006015.6

p.E2098K

c.6292G>A

1 paper

NM_006015.6

p.E2098fs

c.6292_6293fs

2 papers

NM_006015.6

p.E2098*

c.6292G>T