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.H2090R

c.6269A>G

Surrounding Variants

1 paper

NM_006015.6

p.H2090Q

c.6270C>A

2 papers

NM_006015.6

p.H2090fs

c.6268_6269fs

1 paper

NM_006015.6

p.H2090Q

c.6270C>G

7 papers

NM_006015.6

p.W2091*

c.6272G>A

1 paper

NM_006015.6

p.L2089P

c.6266T>C

1 paper

NM_006015.6

p.L2089I

c.6265C>A

2 papers

NM_006015.6

p.L2089fs

c.6265_6266fs

6 papers

NM_006015.6

p.W2091*

c.6273G>A

1 paper

NM_006015.6

p.L2089del1

c.6265_6266delCTA

1 paper

NM_006015.6

p.V2093_Q2100delFs

c.6278_6300del23

1 paper

NM_006015.6

p.A2092E

c.6275C>A

1 paper

NM_006015.6

p.L2089delFs

c.6265delC