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.Y1324S

c.3971A>C

Surrounding Variants

9 papers

NM_006015.6

p.Y1324insFs

c.3971_3972insC

15 papers

NM_006015.6

p.P1326delFs

c.3977delC

5 papers

NM_006015.6

p.Y1324*

c.3972C>A

5 papers

NM_006015.6

p.Y1324*

c.3972C>G

1 paper

NM_006015.6

p.Y1324insFs

c.3971_3972insA

9 papers

NM_006015.6

p.Y1324fs

c.3970_3971fs

1 paper

NM_006015.6

p.P1325R

c.3974C>G

1 paper

NM_006015.6

p.R1323H

c.3968G>A

1 paper

NM_006015.6

p.R1323S

c.3967C>A

6 papers

NM_006015.6

p.R1323C

c.3967C>T

2 papers

NM_006015.6

p.P1326_Q1327del1

c.3977_3979delCGC

4 papers

NM_006015.6

p.P1326_Q1327del2

c.3976_3980del6