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.P1756S

c.5266C>T

Surrounding Variants

1 paper

NM_006015.6

p.P1756insFs

c.5266dupC

2 papers

NM_006015.6

p.P1756_P1758del3

c.5266_5273del9

1 paper

NM_006015.6

p.S1755T

c.5264G>C

1 paper

NM_006015.6

p.S1755fs

c.5263_5264fs

1 paper

NM_006015.6

p.S1755fs

c.5263_5264fs

1 paper

NM_006015.6

p.A1757T

c.5269G>A

3 papers

NM_006015.6

p.A1757S

c.5269G>T

1 paper

NM_006015.6

p.A1757V

c.5270C>T

1 paper

NM_006015.6

p.S1754F

c.5261C>T

1 paper

NM_006015.6

p.S1754delFs

c.5262delT

1 paper

NM_006015.6

p.S1754fs

c.5260_5261fs

1 paper

NM_006015.6

p.S1754delFs

c.5260delT