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.G151_V161delFs

c.452_483del32

Surrounding Variants

2 papers

NM_006015.6

p.G151R

c.451G>A

2 papers

NM_006015.6

p.G151R

c.451G>C

1 paper

NM_006015.6

p.G151fs

c.451_452fs

1 paper

NM_006015.6

p.F150L

c.450C>A

1 paper

NM_006015.6

p.F150L

c.450C>G

2 papers

NM_006015.6

p.G151E

c.452G>A

1 paper

NM_006015.6

p.G151V

c.452G>T

1 paper

NM_006015.6

p.Q152del1

c.454_456delCAA

1 paper

NM_006015.6

p.F150Y

c.449T>A

1 paper

NM_006015.6

p.Q152*

c.454C>T

1 paper

NM_006015.6

p.F150L

c.448T>C

1 paper

NM_006015.6

p.F150V

c.448T>G