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.D1810Y

c.5428G>T

Surrounding Variants

1 paper

NM_006015.6

p.D1810N

c.5428G>A

1 paper

NM_006015.6

p.D1810fs

c.5428_5429fs

1 paper

NM_006015.6

p.D1810G

c.5429A>G

1 paper

NM_006015.6

p.D1810E

c.5430C>A

1 paper

NM_006015.6

p.D1810E

c.5430C>G

1 paper

NM_006015.6

p.F1809S

c.5426T>C

2 papers

NM_006015.6

p.K1811*

c.5431A>T

1 paper

NM_006015.6

p.K1808_F1809insFs

c.5424_5425ins4

1 paper

NM_006015.6

p.K1808insFs

c.5423_5424ins4

1 paper

NM_006015.6

p.K1808T

c.5423A>C

1 paper

NM_006015.6

p.K1808M

c.5423A>T

3 papers

NM_006015.6

p.K1808fs

c.5422_5423fs