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

8 papers

NM_006015.6

p.P224fs

c.670_671fs

Surrounding Variants

8 papers

NM_006015.6

p.P224fs

c.670_671fs

2 papers

NM_006015.6

p.P223L

c.668C>T

1 paper

NM_006015.6

p.P224P

c.672G>A

1 paper

NM_006015.6

p.P225insFs

c.674_675ins16

9 papers

NM_006015.6

p.P225fs

c.673_674fs

4 papers

NM_006015.6

p.P225S

c.673C>T

2 papers

NM_006015.6

p.P223S

c.667C>T

3 papers

NM_006015.6

p.P225fs

c.673_674fs

9 papers

NM_006015.6

p.Y222*

c.666C>A

9 papers

NM_006015.6

p.Y222*

c.666C>G

1 paper

NM_006015.6

p.P225L

c.674C>T

5 papers

NM_006015.6

p.P224insFs

c.671dupC