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.R306fs

c.916_917fs

Surrounding Variants

1 paper

NM_006015.6

p.R306G

c.916C>G

5 papers

NM_006015.6

p.A305V

c.914C>T

1 paper

NM_006015.6

p.G307R

c.919G>C

1 paper

NM_006015.6

p.G307fs

c.919_920fs

1 paper

NM_006015.6

p.G307C

c.919G>T

2 papers

NM_006015.6

p.G307_G314delFs

c.921_940del20

1 paper

NM_006015.6

p.G307D

c.920G>A

1 paper

NM_006015.6

p.S304*

c.911C>A

1 paper

NM_006015.6

p.Y308N

c.922T>A

2 papers

NM_006015.6

p.Y308fs

c.922_923fs

1 paper

NM_006015.6

p.S304del1

c.910_911delTCG

2 papers

NM_006015.6

p.Y308*

c.924C>A