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.G1887delFs

c.5660delG

Surrounding Variants

1 paper

NM_006015.6

p.E1886K

c.5656G>A

1 paper

NM_006015.6

p.E1886D

c.5658G>C

1 paper

NM_006015.6

p.E1886*

c.5656G>T

1 paper

NM_006015.6

p.E1886D

c.5658G>T

1 paper

NM_006015.6

p.E1886fs

c.5656_5657fs

1 paper

NM_006015.6

p.E1886delFs

c.5656delG

1 paper

NM_006015.6

p.G1887S

c.5659G>A

1 paper

NM_006015.6

p.G1887ins2

c.5659_5660ins6

1 paper

NM_006015.6

p.G1887fs

c.5659_5660fs

2 papers

NM_006015.6

p.A1885V

c.5654C>T

1 paper

NM_006015.6

p.A1885insFs

c.5653_5654ins13

1 paper

NM_006015.6

p.A1885fs

c.5653_5654fs