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.H1871Q

c.5613C>A

Surrounding Variants

1 paper

NM_006015.6

p.H1871Q

c.5613C>G

1 paper

NM_006015.6

p.A1872T

c.5614G>A

1 paper

NM_006015.6

p.A1872fs

c.5614_5615fs

9 papers

NM_006015.6

p.A1872V

c.5615C>T

1 paper

NM_006015.6

p.H1871Y

c.5611C>T

1 paper

NM_006015.6

p.P1873delFs

c.5617delC

1 paper

NM_006015.6

p.H1871del1

c.5611_5613delCAC

1 paper

NM_006015.6

p.H1871_A1872delFs

c.5611_5614del4

1 paper

NM_006015.6

p.P1873A

c.5617C>G

1 paper

NM_006015.6

p.P1870L

c.5609C>T

1 paper

NM_006015.6

p.P1870T

c.5608C>A

1 paper

NM_006015.6

p.P1873R

c.5618C>G