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.A141T

c.421G>A

Surrounding Variants

1 paper

NM_006015.6

p.A141fs

c.421_422fs

1 paper

NM_006015.6

p.A140_A141insFs

c.420_421ins8

2 papers

NM_006015.6

p.A140V

c.419C>T

1 paper

NM_006015.6

p.A141delFs

c.421delG

1 paper

NM_006015.6

p.A140T

c.418G>A

1 paper

NM_006015.6

p.A142T

c.424G>A

1 paper

NM_006015.6

p.A140fs

c.418_419fs

1 paper

NM_006015.6

p.A142fs

c.424_425fs

1 paper

NM_006015.6

p.A140fs

c.418_419fs

1 paper

NM_006015.6

p.A139insFs

c.416_417ins5

1 paper

NM_006015.6

p.L143insFs

c.427dupT

2 papers

NM_006015.6

p.A139T

c.415G>A