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.A27delFs

c.80delC

Surrounding Variants

2 papers

NM_006015.6

p.A27T

c.79G>A

1 paper

NM_006015.6

p.A27P

c.79G>C

2 papers

NM_006015.6

p.K26N

c.78A>T

1 paper

NM_006015.6

p.A27D

c.80C>A

1 paper

NM_006015.6

p.A27G

c.80C>G

2 papers

NM_006015.6

p.A27V

c.80C>T

1 paper

NM_006015.6

p.K26R

c.77A>G

1 paper

NM_006015.6

p.K26I

c.77A>T

1 paper

NM_006015.6

p.K26Q

c.76A>C

1 paper

NM_006015.6

p.K26*

c.76A>T

1 paper

NM_006015.6

p.E28K

c.82G>A

1 paper

NM_006015.6

p.E28_Q30ins1

c.84_89dup6