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.P158fs

c.472_473fs

Surrounding Variants

8 papers

NM_006015.6

p.P158S

c.472C>T

1 paper

NM_006015.6

p.S159_V161insFs

c.477_483dup7

3 papers

NM_006015.6

p.P158L

c.473C>T

1 paper

NM_006015.6

p.S157I

c.470G>T

1 paper

NM_006015.6

p.S157fs

c.469_470fs

1 paper

NM_006015.6

p.S157C

c.469A>T

1 paper

NM_006015.6

p.S157fs

c.469_470fs

1 paper

NM_006015.6

p.S159_A164delFs

c.476_491del16

1 paper

NM_006015.6

p.S159C

c.476C>G

2 papers

NM_006015.6

p.S159F

c.476C>T

1 paper

NM_006015.6

p.R156Q

c.467G>A

2 papers

NM_006015.6

p.A160_A162del0

c.478_486del9