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.P1240S

c.3718C>T

Surrounding Variants

1 paper

NM_006015.6

p.S1242_G1249del8

c.3724_3746del24

1 paper

NM_006015.6

p.A1239fs

c.3715_3716fs

1 paper

NM_006015.6

p.G1241fs

c.3721_3722fs

1 paper

NM_006015.6

p.A1239Splc

c.3716-6G>A

3 papers

NM_006015.6

p.A1239Splc

c.3716-7C>T

1 paper

NM_006015.6

p.D1243N

c.3727G>A

1 paper

NM_006015.6

p.P1244delFs

c.3730delC

2 papers

NM_006015.6

p.P1244S

c.3730C>T

1 paper

NM_006015.6

p.P1244H

c.3731C>A

1 paper

NM_006015.6

p.P1244L

c.3731C>T

1 paper

NM_006015.6

p.P1244P

c.3732C>T

1 paper

NM_006015.6

p.F1245fs

c.3733_3734fs