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.P2221P

c.6663A>C

Surrounding Variants

1 paper

NM_006015.6

p.P2222_V2228del7

c.6664_6683del21

2 papers

NM_006015.6

p.P2222S

c.6664C>T

1 paper

NM_006015.6

p.P2221L

c.6662C>T

2 papers

NM_006015.6

p.P2221T

c.6661C>A

1 paper

NM_006015.6

p.P2222L

c.6665C>T

1 paper

NM_006015.6

p.N2220K

c.6660C>A

1 paper

NM_006015.6

p.N2220K

c.6660C>G

1 paper

NM_006015.6

p.F2223delFs

c.6669delT

1 paper

NM_006015.6

p.P2222_E2224Fs

c.6666_6672delinsACATGCAGAACFs

10 papers

NM_006015.6

p.N2220S

c.6659A>G

1 paper

NM_006015.6

p.F2223I

c.6667T>A

2 papers

NM_006015.6

p.F2223fs

c.6667_6668fs