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.Y212F

c.635A>T

Surrounding Variants

2 papers

NM_006015.6

p.Y212*

c.636C>A

2 papers

NM_006015.6

p.Y212*

c.636C>G

1 paper

NM_006015.6

p.Y212H

c.634T>C

1 paper

NM_006015.6

p.N213_S214insT

c.637_641ins3

1 paper

NM_006015.6

p.N213Y

c.637A>T

1 paper

NM_006015.6

p.Q211Q

c.633G>A

1 paper

NM_006015.6

p.N213S

c.638A>G

5 papers

NM_006015.6

p.Q211*

c.631C>T

1 paper

NM_006015.6

p.S214A

c.640T>G

1 paper

NM_006015.6

p.S214fs

c.640_641fs

1 paper

NM_006015.6

p.S214insFs

c.641_642insT

1 paper

NM_006015.6

p.S214F

c.641C>T