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.A167P

c.499G>C

Surrounding Variants

1 paper

NM_006015.6

p.A167T

c.499G>A

1 paper

NM_006015.6

p.A167fs

c.499_500fs

1 paper

NM_006015.6

p.A167V

c.500C>T

2 papers

NM_006015.6

p.A166V

c.497C>T

1 paper

NM_006015.6

p.A166T

c.496G>A

2 papers

NM_006015.6

p.A166fs

c.496_497fs

1 paper

NM_006015.6

p.V168F

c.502G>T

1 paper

NM_006015.6

p.A166delFs

c.497_498delCC

1 paper

NM_006015.6

p.A166_H173delFs

c.498_517del20

3 papers

NM_006015.6

p.A167del1

c.499_500delGCC

1 paper

NM_006015.6

p.V168G

c.503T>G

3 papers

NM_006015.6

p.A165V

c.494C>T