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.N106_R110delFs

c.318_328del11

Surrounding Variants

2 papers

NM_006015.6

p.N106fs

c.316_317fs

2 papers

NM_006015.6

p.N106D

c.316A>G

1 paper

NM_006015.6

p.N106insFs

c.317_318ins7

2 papers

NM_006015.6

p.N106S

c.317A>G

1 paper

NM_006015.6

p.N106N

c.318C>T

1 paper

NM_006015.6

p.A107_R110delFs

c.319_328del10

2 papers

NM_006015.6

p.G105V

c.314G>T

1 paper

NM_006015.6

p.G105_P109delFs

c.315_325del11

3 papers

NM_006015.6

p.A107fs

c.319_320fs

2 papers

NM_006015.6

p.G105fs

c.313_314fs

1 paper

NM_006015.6

p.A107S

c.319G>T

1 paper

NM_006015.6

p.A107fs

c.319_320fs