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.Q288H

c.864G>C

Surrounding Variants

1 paper

NM_006015.6

p.P289_T290insFs

c.867_868ins7

4 papers

NM_006015.6

p.Q288P

c.863A>C

2 papers

NM_006015.6

p.Q288R

c.863A>G

1 paper

NM_006015.6

p.Q288delFs

c.864delG

1 paper

NM_006015.6

p.P289A

c.865C>G

3 papers

NM_006015.6

p.P289S

c.865C>T

1 paper

NM_006015.6

p.Q288_P289insC

c.862_866ins3

1 paper

NM_006015.6

p.Q288E

c.862C>G

4 papers

NM_006015.6

p.Q288*

c.862C>T

1 paper

NM_006015.6

p.P289L

c.866C>T

4 papers

NM_006015.6

p.Q288fs

c.862_863fs

1 paper

NM_006015.6

p.Q288delFs

c.862_863delCA