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.P2108L

c.6323C>T

Surrounding Variants

1 paper

NM_006015.6

p.P2108H

c.6323C>A

1 paper

NM_006015.6

p.N2109fs

c.6325_6326fs

2 papers

NM_006015.6

p.A2110T

c.6328G>A

1 paper

NM_006015.6

p.A2110S

c.6328G>T

1 paper

NM_006015.6

p.L2106M

c.6316C>A

1 paper

NM_006015.6

p.L2106fs

c.6316_6317fs

2 papers

NM_006015.6

p.L2106fs

c.6316_6317fs

4 papers

NM_006015.6

p.V2111I

c.6331G>A

2 papers

NM_006015.6

p.T2105I

c.6314C>T

1 paper

NM_006015.6

p.T2105fs

c.6313_6314fs

1 paper

NM_006015.6

p.T2105P

c.6313A>C

1 paper

NM_006015.6

p.T2105_L2106delFs

c.6315_6316delCC