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.P239L

c.716C>T

Surrounding Variants

1 paper

NM_006015.6

p.G240delFs

c.719delG

1 paper

NM_006015.6

p.P239fs

c.715_716fs

3 papers

NM_006015.6

p.G240fs

c.718_719fs

1 paper

NM_006015.6

p.P239delFs

c.716delC

6 papers

NM_006015.6

p.G240D

c.719G>A

2 papers

NM_006015.6

p.G240A

c.719G>C

1 paper

NM_006015.6

p.T238P

c.712A>C

1 paper

NM_006015.6

p.S241_A245del5

c.721_734del15

1 paper

NM_006015.6

p.S241T

c.721T>A

1 paper

NM_006015.6

p.S241P

c.721T>C

2 papers

NM_006015.6

p.S241fs

c.721_722fs

1 paper

NM_006015.6

p.S241delFs

c.723delC