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.M1insFs

c.2_3ins20

Surrounding Variants

2 papers

NM_006015.6

p.M1K

c.2T>A

2 papers

NM_006015.6

p.M1T

c.2T>C

1 paper

NM_006015.6

p.M1R

c.2T>G

1 paper

NM_006015.6

p.M1insFs

c.2_3insG

1 paper

NM_006015.6

p.M1insFs

c.2_3ins5

2 papers

NM_006015.6

p.A2delFs

c.4delG

1 paper

NM_006015.6

p.M1insFs

c.1_2ins44

1 paper

NM_006015.6

p.M1insFs

c.1_2ins32

1 paper

NM_006015.6

p.M1insFs

c.1_2insC

1 paper

NM_006015.6

p.M1insFs

c.1_2insGT

1 paper

NM_006015.6

p.M1fs

c.1_2fs

3 papers

NM_006015.6

p.M1insFs

c.2dupT