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

5 papers

NM_006015.6

p.Q172*

c.514C>T

Surrounding Variants

2 papers

NM_006015.6

p.Q171H

c.513A>C

2 papers

NM_006015.6

p.Q171H

c.513A>T

1 paper

NM_006015.6

p.H173delFs

c.517delC

1 paper

NM_006015.6

p.H173_G174ins16

c.517_521ins48

1 paper

NM_006015.6

p.Q171E

c.511C>G

6 papers

NM_006015.6

p.Q171*

c.511C>T

1 paper

NM_006015.6

p.H173Y

c.517C>T

1 paper

NM_006015.6

p.H173P

c.518A>C

1 paper

NM_006015.6

p.H173delFs

c.519delT

1 paper

NM_006015.6

p.H170_Q171delins

c.510_511delinsTT

1 paper

NM_006015.6

p.Q171del1

c.511_513delCAA

1 paper

NM_006015.6

p.H170R

c.509A>G