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.S1322G

c.3964A>G

Surrounding Variants

1 paper

NM_006015.6

p.R1323S

c.3967C>A

6 papers

NM_006015.6

p.R1323C

c.3967C>T

1 paper

NM_006015.6

p.P1321S

c.3961C>T

1 paper

NM_006015.6

p.R1323H

c.3968G>A

1 paper

NM_006015.6

p.S1320Y

c.3959C>A

2 papers

NM_006015.6

p.S1320A

c.3958T>G

1 paper

NM_006015.6

p.Y1324insFs

c.3971_3972insA

9 papers

NM_006015.6

p.Y1324fs

c.3970_3971fs

9 papers

NM_006015.6

p.Y1324insFs

c.3971_3972insC

1 paper

NM_006015.6

p.Y1324S

c.3971A>C

15 papers

NM_006015.6

p.P1326delFs

c.3977delC

6 papers

NM_006015.6

p.Y1319*

c.3957T>A