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.G276R

c.826G>A

Surrounding Variants

20 papers

NM_006015.6

p.G276fs

c.826_827fs

3 papers

NM_006015.6

p.G276*

c.826G>T

10 papers

NM_006015.6

p.G276fs

c.826_827fs

1 paper

NM_006015.6

p.G276V

c.827G>T

1 paper

NM_006015.6

p.G275A

c.824G>C

2 papers

NM_006015.6

p.G275V

c.824G>T

1 paper

NM_006015.6

p.G277S

c.829G>A

2 papers

NM_006015.6

p.G277R

c.829G>C

5 papers

NM_006015.6

p.G277fs

c.829_830fs

2 papers

NM_006015.6

p.G277fs

c.829_830fs

3 papers

NM_006015.6

p.P279_A282delFs

c.836_846del11

1 paper

NM_006015.6

p.G275fs

c.823_824fs