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

2 papers

NM_006015.6

p.L2270fs

c.6808_6809fs

Surrounding Variants

10 papers

NM_006015.6

p.S2269*

c.6806C>A

10 papers

NM_006015.6

p.S2269*

c.6806C>G

2 papers

NM_006015.6

p.S2269L

c.6806C>T

1 paper

NM_006015.6

p.S2269_L2270delFs

c.6807_6808delAT

1 paper

NM_006015.6

p.S2269_L2270delFs

c.6807_6810del4

1 paper

NM_006015.6

p.S2269fs

c.6805_6806fs

1 paper

NM_006015.6

p.N2268K

c.6804C>A

1 paper

NM_006015.6

p.N2268K

c.6804C>G

1 paper

NM_006015.6

p.N2268N

c.6804C>T

1 paper

NM_006015.6

p.N2268fs

c.6802_6803fs

3 papers

NM_006015.6

p.S2272*

c.6815C>A

1 paper

NM_006015.6

p.S2272insFs

c.6815_6816ins4