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.S2142S

c.6426C>T

Surrounding Variants

2 papers

NM_006015.6

p.S2142R

c.6426C>A

2 papers

NM_006015.6

p.S2142R

c.6426C>G

4 papers

NM_006015.6

p.R2143C

c.6427C>T

1 paper

NM_006015.6

p.R2143fs

c.6427_6428fs

1 paper

NM_006015.6

p.S2142N

c.6425G>A

1 paper

NM_006015.6

p.S2142T

c.6425G>C

1 paper

NM_006015.6

p.S2142I

c.6425G>T

1 paper

NM_006015.6

p.S2142delFs

c.6426delC

2 papers

NM_006015.6

p.S2142R

c.6424A>C

1 paper

NM_006015.6

p.S2142C

c.6424A>T

4 papers

NM_006015.6

p.R2143H

c.6428G>A

1 paper

NM_006015.6

p.R2143P

c.6428G>C