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.I2185insFs

c.6553_6554dupAT

Surrounding Variants

1 paper

NM_006015.6

p.I2185fs

c.6553_6554fs

1 paper

NM_006015.6

p.I2185_F2198del14

c.6553_6593del42

2 papers

NM_006015.6

p.I2185T

c.6554T>C

1 paper

NM_006015.6

p.A2186_I2192del7

c.6556_6575del21

1 paper

NM_006015.6

p.R2183H

c.6548G>A

6 papers

NM_006015.6

p.R2183C

c.6547C>T

1 paper

NM_006015.6

p.A2182_R2183delins

c.6546_6547delinsCT

1 paper

NM_006015.6

p.R2183_K2189del7

c.6547_6566del21

1 paper

NM_006015.6

p.V2187M

c.6559G>A

2 papers

NM_006015.6

p.Q2188*

c.6562C>T

2 papers

NM_006015.6

p.A2181fs

c.6541_6542fs

1 paper

NM_006015.6

p.A2181fs

c.6541_6542fs