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.S1985fs

c.5953_5954fs

Surrounding Variants

9 papers

NM_006015.6

p.S1985P

c.5953T>C

1 paper

NM_006015.6

p.S1985Y

c.5954C>A

2 papers

NM_006015.6

p.S1985C

c.5954C>G

1 paper

NM_006015.6

p.N1986fs

c.5956_5957fs

1 paper

NM_006015.6

p.V1984_T1987del0

c.5951_5959del9

1 paper

NM_006015.6

p.N1986S

c.5957A>G

3 papers

NM_006015.6

p.C1983*

c.5949T>A

2 papers

NM_006015.6

p.C1983S

c.5948G>C

1 paper

NM_006015.6

p.C1983F

c.5948G>T

2 papers

NM_006015.6

p.C1983S

c.5947T>A

2 papers

NM_006015.6

p.T1987I

c.5960C>T

1 paper

NM_006015.6

p.C1983delFs

c.5947_5948delTG