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.T300insFs

c.898dupA

Surrounding Variants

1 paper

NM_006015.6

p.T300insFs

c.898_899ins4

1 paper

NM_006015.6

p.T300fs

c.898_899fs

1 paper

NM_006015.6

p.L299insFs

c.896_897insC

1 paper

NM_006015.6

p.T300K

c.899C>A

1 paper

NM_006015.6

p.L299fs

c.895_896fs

2 papers

NM_006015.6

p.L299F

c.895C>T

1 paper

NM_006015.6

p.S301*

c.902C>A

2 papers

NM_006015.6

p.L298L

c.892C>T

1 paper

NM_006015.6

p.S301S

c.903G>C

1 paper

NM_006015.6

p.P302del1

c.904_906delCCC

2 papers

NM_006015.6

p.Q297fs

c.889_890fs

3 papers

NM_006015.6

p.Q297*

c.889C>T