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.E1860insFs

c.5579_5580insA

Surrounding Variants

2 papers

NM_006015.6

p.E1860K

c.5578G>A

3 papers

NM_006015.6

p.E1860*

c.5578G>T

2 papers

NM_006015.6

p.F1859L

c.5577C>A

3 papers

NM_006015.6

p.F1859L

c.5577C>G

1 paper

NM_006015.6

p.F1859insFs

c.5577dupC

1 paper

NM_006015.6

p.F1859delFs

c.5577delC

1 paper

NM_006015.6

p.F1859_S1861delFs

c.5577_5581del5

2 papers

NM_006015.6

p.F1859L

c.5575T>C

3 papers

NM_006015.6

p.F1859fs

c.5575_5576fs

1 paper

NM_006015.6

p.F1859fs

c.5575_5576fs

1 paper

NM_006015.6

p.H1858fs

c.5572_5573fs

2 papers

NM_006015.6

p.H1858_F1859delFs

c.5573_5576del4