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.A259_S260del2

c.775_779del6

Surrounding Variants

1 paper

NM_006015.6

p.S256N

c.767G>A

1 paper

NM_006015.6

p.S256R

c.766A>C

2 papers

NM_006015.6

p.S256G

c.766A>G

1 paper

NM_006015.6

p.S256C

c.766A>T

1 paper

NM_006015.6

p.S256R

c.768C>A

1 paper

NM_006015.6

p.S256R

c.768C>G

1 paper

NM_006015.6

p.A257_S258insTA

c.769_773ins6

3 papers

NM_006015.6

p.S258_S260del3

c.772_779del9

2 papers

NM_006015.6

p.A257V

c.770C>T

1 paper

NM_006015.6

p.S256del1

c.766_767delAGC

2 papers

NM_006015.6

p.S258fs

c.772_773fs

1 paper

NM_006015.6

p.S254F

c.761C>T