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.P144_A147delFs

c.430_440del11

Surrounding Variants

1 paper

NM_006015.6

p.L143L

c.429G>A

1 paper

NM_006015.6

p.P144fs

c.430_431fs

1 paper

NM_006015.6

p.P144S

c.430C>T

1 paper

NM_006015.6

p.L143insFs

c.427dupT

7 papers

NM_006015.6

p.P146delFs

c.437delC

3 papers

NM_006015.6

p.P145fs

c.433_434fs

1 paper

NM_006015.6

p.P145S

c.433C>T

1 paper

NM_006015.6

p.A142T

c.424G>A

1 paper

NM_006015.6

p.A142fs

c.424_425fs

4 papers

NM_006015.6

p.P146fs

c.436_437fs

1 paper

NM_006015.6

p.P146S

c.436C>T

4 papers

NM_006015.6

p.P146fs

c.436_437fs