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.G89_A96delFs

c.267_286del20

Surrounding Variants

1 paper

NM_006015.6

p.A88V

c.263C>T

1 paper

NM_006015.6

p.S90_G91insFs

c.270_271dupCG

6 papers

NM_006015.6

p.S90fs

c.268_269fs

1 paper

NM_006015.6

p.S90R

c.268A>C

10 papers

NM_006015.6

p.S90G

c.268A>G

1 paper

NM_006015.6

p.S90delFs

c.269_270delGC

4 papers

NM_006015.6

p.S90fs

c.268_269fs

1 paper

NM_006015.6

p.G92del1

c.274_276delGGC

1 paper

NM_006015.6

p.A88P

c.262G>C

1 paper

NM_006015.6

p.G87G

c.261A>T

1 paper

NM_006015.6

p.A88_G93del0

c.263_277del15

1 paper

NM_006015.6

p.A88_G93delFs

c.262_278del17