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.S1301fs

c.3901_3902fs

Surrounding Variants

1 paper

NM_006015.6

p.S1301_T1302insG

c.3901_3905ins3

1 paper

NM_006015.6

p.S1301R

c.3901A>C

1 paper

NM_006015.6

p.S1301G

c.3901A>G

2 papers

NM_006015.6

p.S1301N

c.3902G>A

1 paper

NM_006015.6

p.S1301delFs

c.3901delA

1 paper

NM_006015.6

p.S1301R

c.3903C>A

1 paper

NM_006015.6

p.S1301R

c.3903C>G

1 paper

NM_006015.6

p.T1302delFs

c.3904delA

1 paper

NM_006015.6

p.T1302A

c.3904A>G

2 papers

NM_006015.6

p.T1302S

c.3904A>T

1 paper

NM_006015.6

p.T1302_A1304delFs

c.3906_3912del7

2 papers

NM_006015.6

p.T1302S

c.3905C>G