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.L2073fs

c.6217_6218fs

Surrounding Variants

1 paper

NM_006015.6

p.L2073Q

c.6218T>A

1 paper

NM_006015.6

p.L2073R

c.6218T>G

1 paper

NM_006015.6

p.D2072H

c.6214G>C

1 paper

NM_006015.6

p.S2074fs

c.6220_6221fs

1 paper

NM_006015.6

p.S2074_P2075ins1

c.6222_6223insATT

1 paper

NM_006015.6

p.L2071S

c.6212T>C

1 paper

NM_006015.6

p.P2075delFs

c.6224delC

1 paper

NM_006015.6

p.P2075insFs

c.6224_6225insT

1 paper

NM_006015.6

p.P2075L

c.6224C>T

3 papers

NM_006015.6

p.P2075delFs

c.6225delA

1 paper

NM_006015.6

p.Q2070H

c.6210G>C

1 paper

NM_006015.6

p.Q2070H

c.6210G>T