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

2 papers

NM_006015.6

p.N2130S

c.6389A>G

Surrounding Variants

1 paper

NM_006015.6

p.N2130T

c.6389A>C

1 paper

NM_006015.6

p.N2130I

c.6389A>T

1 paper

NM_006015.6

p.N2130delFs

c.6390delC

1 paper

NM_006015.6

p.N2130fs

c.6388_6389fs

1 paper

NM_006015.6

p.N2131insFs

c.6392dupA

1 paper

NM_006015.6

p.N2131delFs

c.6392delA

2 papers

NM_006015.6

p.N2131fs

c.6391_6392fs

1 paper

NM_006015.6

p.D2129E

c.6387C>A

1 paper

NM_006015.6

p.D2129E

c.6387C>G

1 paper

NM_006015.6

p.N2131T

c.6392A>C

1 paper

NM_006015.6

p.N2131S

c.6392A>G

1 paper

NM_006015.6

p.D2129N

c.6385G>A