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.P18_S22delFs

c.53_66del14

Surrounding Variants

1 paper

NM_006015.6

p.P18fs

c.52_53fs

1 paper

NM_006015.6

p.P18R

c.53C>G

1 paper

NM_006015.6

p.P18delFs

c.52delC

1 paper

NM_006015.6

p.P19delFs

c.55_56delCC

1 paper

NM_006015.6

p.P19fs

c.55_56fs

1 paper

NM_006015.6

p.P19fs

c.55_56fs

1 paper

NM_006015.6

p.P19Q

c.56C>A

1 paper

NM_006015.6

p.P19R

c.56C>G

1 paper

NM_006015.6

p.P16_P17insC

c.46_50ins3

2 papers

NM_006015.6

p.P16S

c.46C>T

2 papers

NM_006015.6

p.P21ins2

c.62_63ins6

12 papers

NM_006015.6

p.P20_P21del1

c.60_62delGCC