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.S280A

c.838T>G

Surrounding Variants

1 paper

NM_006015.6

p.S280P

c.838T>C

1 paper

NM_006015.6

p.S280fs

c.838_839fs

1 paper

NM_006015.6

p.P279insFs

c.835_836insA

1 paper

NM_006015.6

p.P279A

c.835C>G

2 papers

NM_006015.6

p.P279fs

c.835_836fs

1 paper

NM_006015.6

p.A281T

c.841G>A

1 paper

NM_006015.6

p.A281P

c.841G>C

1 paper

NM_006015.6

p.A281fs

c.841_842fs

3 papers

NM_006015.6

p.G278D

c.833G>A

2 papers

NM_006015.6

p.A281A

c.843G>A

2 papers

NM_006015.6

p.G278A

c.833G>C

1 paper

NM_006015.6

p.P279_S280del0

c.835_840del6