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.P94fs

c.280_281fs

Surrounding Variants

2 papers

NM_006015.6

p.P94A

c.280C>G

2 papers

NM_006015.6

p.P94S

c.280C>T

1 paper

NM_006015.6

p.P94fs

c.280_281fs

1 paper

NM_006015.6

p.P94L

c.281C>T

1 paper

NM_006015.6

p.G95_D99del5

c.283_296del15

1 paper

NM_006015.6

p.P94delFs

c.282delC

1 paper

NM_006015.6

p.P94_G95insFs

c.282_283insCG

2 papers

NM_006015.6

p.G93E

c.278G>A

1 paper

NM_006015.6

p.G93V

c.278G>T

2 papers

NM_006015.6

p.G93R

c.277G>A

2 papers

NM_006015.6

p.G93R

c.277G>C

2 papers

NM_006015.6

p.G95fs

c.283_284fs