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.S304del1

c.910_911delTCG

Surrounding Variants

4 papers

NM_006015.6

p.S303T

c.908G>C

1 paper

NM_006015.6

p.S303I

c.908G>T

1 paper

NM_006015.6

p.S303insFs

c.907_908ins13

1 paper

NM_006015.6

p.S303fs

c.907_908fs

1 paper

NM_006015.6

p.S304*

c.911C>A

1 paper

NM_006015.6

p.P302P

c.906C>A

2 papers

NM_006015.6

p.G307_G314delFs

c.921_940del20

5 papers

NM_006015.6

p.A305V

c.914C>T

1 paper

NM_006015.6

p.S301S

c.903G>C

1 paper

NM_006015.6

p.P302del1

c.904_906delCCC

1 paper

NM_006015.6

p.S301*

c.902C>A

1 paper

NM_006015.6

p.R306fs

c.916_917fs