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.Q176R

c.527A>G

Surrounding Variants

1 paper

NM_006015.6

p.Q176fs

c.526_527fs

1 paper

NM_006015.6

p.Q176E

c.526C>G

5 papers

NM_006015.6

p.Q176*

c.526C>T

1 paper

NM_006015.6

p.Q177fs

c.529_530fs

6 papers

NM_006015.6

p.Q177*

c.529C>T

1 paper

NM_006015.6

p.Q177delFs

c.530_531delAA

1 paper

NM_006015.6

p.G175A

c.524G>C

1 paper

NM_006015.6

p.G175R

c.523G>A

1 paper

NM_006015.6

p.G175R

c.523G>C

1 paper

NM_006015.6

p.G175fs

c.523_524fs

1 paper

NM_006015.6

p.G175fs

c.523_524fs

1 paper

NM_006015.6

p.G175delFs

c.524delG