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.L1713_Y1719delFs

c.5138_5157del20

Surrounding Variants

2 papers

NM_006015.6

p.L1713P

c.5138T>C

2 papers

NM_006015.6

p.L1712*

c.5135T>A

3 papers

NM_006015.6

p.E1714Q

c.5140G>C

1 paper

NM_006015.6

p.G1711_L1712insFs

c.5133_5134insT

1 paper

NM_006015.6

p.E1714E

c.5142G>A

1 paper

NM_006015.6

p.E1714D

c.5142G>C

1 paper

NM_006015.6

p.G1711V

c.5132G>T

1 paper

NM_006015.6

p.E1714D

c.5142G>T

3 papers

NM_006015.6

p.G1711fs

c.5131_5132fs

1 paper

NM_006015.6

p.G1711fs

c.5131_5132fs

1 paper

NM_006015.6

p.G1711delFs

c.5131delG

1 paper

NM_006015.6

p.G1711delFs

c.5131_5132delGG