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.N114D

c.340A>G

Surrounding Variants

1 paper

NM_006015.6

p.N114ins2

c.341_342ins6

2 papers

NM_006015.6

p.N114_N116del3

c.340_347del9

1 paper

NM_006015.6

p.N114N

c.342C>T

1 paper

NM_006015.6

p.N115_N116delFs

c.343_347del5

1 paper

NM_006015.6

p.L113_N115delFs

c.339_343del5

1 paper

NM_006015.6

p.N115_N116insGCG

c.343_347ins9

2 papers

NM_006015.6

p.N115D

c.343A>G

1 paper

NM_006015.6

p.N115Y

c.343A>T

1 paper

NM_006015.6

p.L113fs

c.337_338fs

1 paper

NM_006015.6

p.L113_N114insGGC

c.337_341ins9

1 paper

NM_006015.6

p.L113V

c.337C>G

1 paper

NM_006015.6

p.L113fs

c.337_338fs