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.L1922fs

c.5764_5765fs

Surrounding Variants

1 paper

NM_006015.6

p.L1922*

c.5765T>A

1 paper

NM_006015.6

p.L1922F

c.5766G>C

1 paper

NM_006015.6

p.L1922F

c.5766G>T

1 paper

NM_006015.6

p.T1921_L1922insFs

c.5763_5764insCC

2 papers

NM_006015.6

p.T1921fs

c.5761_5762fs

1 paper

NM_006015.6

p.T1921delFs

c.5762delC

1 paper

NM_006015.6

p.T1923delFs

c.5768delC

1 paper

NM_006015.6

p.T1923T

c.5769C>T

1 paper

NM_006015.6

p.S1920N

c.5759G>A

1 paper

NM_006015.6

p.S1920fs

c.5758_5759fs

1 paper

NM_006015.6

p.S1920delFs

c.5759_5760delGC

5 papers

NM_006015.6

p.E1924K

c.5770G>A