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

2 papers

NM_006015.6

p.G318A

c.953G>C

Surrounding Variants

1 paper

NM_006015.6

p.Q321_P329insFs

c.961_986dup26

1 paper

NM_006015.6

p.G319del1

c.955_956delGGG

2 papers

NM_006015.6

p.Q321_P329delFs

c.961_986del26

1 paper

NM_006015.6

p.G318fs

c.952_953fs

3 papers

NM_006015.6

p.G319fs

c.955_956fs

1 paper

NM_006015.6

p.G319W

c.955G>T

1 paper

NM_006015.6

p.G319_A325delFs

c.956_975del20

1 paper

NM_006015.6

p.G319_G328del10

c.955_983del30

1 paper

NM_006015.6

p.G318_G328del11

c.952_983del33

1 paper

NM_006015.6

p.G319E

c.956G>A

1 paper

NM_006015.6

p.S317fs

c.949_950fs

1 paper

NM_006015.6

p.S317_G318ins7

c.949_953ins21