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.A54D

c.161C>A

Surrounding Variants

2 papers

NM_006015.6

p.A54G

c.161C>G

2 papers

NM_006015.6

p.A54V

c.161C>T

1 paper

NM_006015.6

p.G55delFs

c.164_165delGG

1 paper

NM_006015.6

p.G55_Q56del2

c.163_167del6

1 paper

NM_006015.6

p.A54S

c.160G>T

1 paper

NM_006015.6

p.G55R

c.163G>A

2 papers

NM_006015.6

p.G55R

c.163G>C

1 paper

NM_006015.6

p.G55fs

c.163_164fs

1 paper

NM_006015.6

p.A53D

c.158C>A

1 paper

NM_006015.6

p.G55A

c.164G>C

3 papers

NM_006015.6

p.A53T

c.157G>A

1 paper

NM_006015.6

p.A53fs

c.157_158fs