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.T1884_T1888delFs

c.5650_5663del14

Surrounding Variants

2 papers

NM_006015.6

p.T1884fs

c.5650_5651fs

1 paper

NM_006015.6

p.T1884S

c.5650A>T

1 paper

NM_006015.6

p.T1884fs

c.5650_5651fs

1 paper

NM_006015.6

p.T1883_A1885delFs

c.5649_5655del7

1 paper

NM_006015.6

p.T1883S

c.5647A>T

1 paper

NM_006015.6

p.A1885_T1888delFs

c.5653_5662del10

1 paper

NM_006015.6

p.A1885insFs

c.5653_5654ins13

1 paper

NM_006015.6

p.A1885fs

c.5653_5654fs

1 paper

NM_006015.6

p.V1882_T1883delFs

c.5646_5647delGA

2 papers

NM_006015.6

p.A1885V

c.5654C>T

1 paper

NM_006015.6

p.V1882L

c.5644G>C

1 paper

NM_006015.6

p.V1882_T1883ins5

c.5644_5648ins15