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.L231fs

c.691_692fs

Surrounding Variants

1 paper

NM_006015.6

p.L231L

c.691C>T

1 paper

NM_006015.6

p.A230_R235Fs

c.690_705delinsGGFs

2 papers

NM_006015.6

p.A230V

c.689C>T

1 paper

NM_006015.6

p.S232C

c.694A>T

1 paper

NM_006015.6

p.S232_P239del0

c.695_715del21

2 papers

NM_006015.6

p.A230T

c.688G>A

1 paper

NM_006015.6

p.A230P

c.688G>C

1 paper

NM_006015.6

p.Y229*

c.687C>A

1 paper

NM_006015.6

p.Y229*

c.687C>G

1 paper

NM_006015.6

p.Y229C

c.686A>G

1 paper

NM_006015.6

p.Y229F

c.686A>T

1 paper

NM_006015.6

p.Y229_A230delFs

c.687_688delCG