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

3 papers

NM_006015.6

p.Y2076*

c.6228C>G

Surrounding Variants

3 papers

NM_006015.6

p.Y2076*

c.6228C>A

1 paper

NM_006015.6

p.Y2076insFs

c.6228dupC

1 paper

NM_006015.6

p.P2077delFs

c.6231delC

1 paper

NM_006015.6

p.P2077L

c.6230C>T

3 papers

NM_006015.6

p.Y2076fs

c.6226_6227fs

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

11 papers

NM_006015.6

p.E2078K

c.6232G>A

1 paper

NM_006015.6

p.E2078fs

c.6232_6233fs

1 paper

NM_006015.6

p.E2078_S2079insA

c.6232_6236ins3

7 papers

NM_006015.6

p.E2078*

c.6232G>T