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

3 papers

NM_006015.6

p.G284R

c.850G>C

Surrounding Variants

3 papers

NM_006015.6

p.G284R

c.850G>A

5 papers

NM_006015.6

p.G284fs

c.850_851fs

1 paper

NM_006015.6

p.G285insFs

c.854dupG

5 papers

NM_006015.6

p.G285delFs

c.854delG

1 paper

NM_006015.6

p.G284V

c.851G>T

1 paper

NM_006015.6

p.G283A

c.848G>C

2 papers

NM_006015.6

p.G283S

c.847G>A

1 paper

NM_006015.6

p.G285R

c.853G>A

1 paper

NM_006015.6

p.G285R

c.853G>C

4 papers

NM_006015.6

p.G285fs

c.853_854fs

2 papers

NM_006015.6

p.G285*

c.853G>T

2 papers

NM_006015.6

p.G285fs

c.853_854fs