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.G1996D

c.5987G>A

Surrounding Variants

1 paper

NM_006015.6

p.G1996V

c.5987G>T

1 paper

NM_006015.6

p.N1997fs

c.5989_5990fs

2 papers

NM_006015.6

p.N1997D

c.5989A>G

1 paper

NM_006015.6

p.P1995S

c.5983C>T

1 paper

NM_006015.6

p.P1995fs

c.5983_5984fs

1 paper

NM_006015.6

p.D1998H

c.5992G>C

1 paper

NM_006015.6

p.D1998fs

c.5992_5993fs

3 papers

NM_006015.6

p.F1999insFs

c.5997dupT

1 paper

NM_006015.6

p.F1999delFs

c.5997delT

2 papers

NM_006015.6

p.F1999delFs

c.5996_5997delTT

1 paper

NM_006015.6

p.V1994delFs

c.5981delT

1 paper

NM_006015.6

p.V1994fs

c.5980_5981fs