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.P98L

c.293C>T

Surrounding Variants

1 paper

NM_006015.6

p.P98S

c.292C>T

2 papers

NM_006015.6

p.E97E

c.291G>A

2 papers

NM_006015.6

p.D99G

c.296A>G

1 paper

NM_006015.6

p.E97G

c.290A>G

1 paper

NM_006015.6

p.P98_A107del10

c.292_320del30

2 papers

NM_006015.6

p.E97K

c.289G>A

1 paper

NM_006015.6

p.E97*

c.289G>T

1 paper

NM_006015.6

p.L100fs

c.298_299fs

1 paper

NM_006015.6

p.A96_E97insFs

c.288_289insC

1 paper

NM_006015.6

p.E97_N104insFs

c.291_310dup20

1 paper

NM_006015.6

p.A96V

c.287C>T

1 paper

NM_006015.6

p.L100Q

c.299T>A