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.A8T

c.22G>A

Surrounding Variants

1 paper

NM_006015.6

p.A8P

c.22G>C

1 paper

NM_006015.6

p.A8insFs

c.22_23insA

1 paper

NM_006015.6

p.A8fs

c.22_23fs

1 paper

NM_006015.6

p.A8S

c.22G>T

1 paper

NM_006015.6

p.A8D

c.23C>A

1 paper

NM_006015.6

p.A8G

c.23C>G

1 paper

NM_006015.6

p.P7P

c.21C>T

1 paper

NM_006015.6

p.A8V

c.23C>T

1 paper

NM_006015.6

p.A8A

c.24C>T

3 papers

NM_006015.6

p.P7fs

c.19_20fs

1 paper

NM_006015.6

p.P7A

c.19C>G

1 paper

NM_006015.6

p.P7S

c.19C>T