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.N116Y

c.346A>T

Surrounding Variants

1 paper

NM_006015.6

p.N116fs

c.346_347fs

1 paper

NM_006015.6

p.N116fs

c.346_347fs

1 paper

NM_006015.6

p.N115K

c.345T>A

1 paper

NM_006015.6

p.N115K

c.345T>G

1 paper

NM_006015.6

p.N116delFs

c.347delA

3 papers

NM_006015.6

p.N116delFs

c.346_347delAA

1 paper

NM_006015.6

p.N115S

c.344A>G

1 paper

NM_006015.6

p.N115I

c.344A>T

1 paper

NM_006015.6

p.L117_P120del4

c.349_359del12

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