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

2 papers

NM_006015.6

p.Y148*

c.444C>G

Surrounding Variants

2 papers

NM_006015.6

p.Y148*

c.444C>A

1 paper

NM_006015.6

p.Y148F

c.443A>T

1 paper

NM_006015.6

p.G149ins1

c.446_447insAAC

1 paper

NM_006015.6

p.G149V

c.446G>T

1 paper

NM_006015.6

p.F150L

c.448T>C

1 paper

NM_006015.6

p.F150V

c.448T>G

1 paper

NM_006015.6

p.F150_Y154delFs

c.450_460del11

2 papers

NM_006015.6

p.A147P

c.439G>C

1 paper

NM_006015.6

p.F150Y

c.449T>A

1 paper

NM_006015.6

p.A147_P153insFs

c.439_457dup19

1 paper

NM_006015.6

p.F150L

c.450C>A

1 paper

NM_006015.6

p.F150L

c.450C>G