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.S261fs

c.781_782fs

Surrounding Variants

1 paper

NM_006015.6

p.S261_S264delFs

c.782_791del10

3 papers

NM_006015.6

p.S261*

c.782C>A

1 paper

NM_006015.6

p.S260S

c.780C>A

1 paper

NM_006015.6

p.S261W

c.782C>G

1 paper

NM_006015.6

p.S261L

c.782C>T

1 paper

NM_006015.6

p.S261delFs

c.783delG

3 papers

NM_006015.6

p.S261del1

c.781_782delTCG

1 paper

NM_006015.6

p.S262A

c.784T>G

1 paper

NM_006015.6

p.S262*

c.785C>A

1 paper

NM_006015.6

p.S262W

c.785C>G

1 paper

NM_006015.6

p.S262L

c.785C>T

1 paper

NM_006015.6

p.S260delFs

c.778_779delTC