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

4 papers

NM_006015.6

p.Q74*

c.220C>T

Surrounding Variants

1 paper

NM_006015.6

p.Q74fs

c.220_221fs

1 paper

NM_006015.6

p.Q74fs

c.220_221fs

1 paper

NM_006015.6

p.Q74R

c.221A>G

1 paper

NM_006015.6

p.Q74insFs

c.220dupC

1 paper

NM_006015.6

p.L73P

c.218T>C

1 paper

NM_006015.6

p.D75N

c.223G>A

1 paper

NM_006015.6

p.D75G

c.224A>G

2 papers

NM_006015.6

p.D75V

c.224A>T

1 paper

NM_006015.6

p.G76_S79delFs

c.227_236del10

1 paper

NM_006015.6

p.E72K

c.214G>A

1 paper

NM_006015.6

p.G76R

c.226G>A

2 papers

NM_006015.6

p.G76R

c.226G>C