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.G1711fs

c.5131_5132fs

Surrounding Variants

3 papers

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

1 paper

NM_006015.6

p.G1711V

c.5132G>T

1 paper

NM_006015.6

p.P1710L

c.5129C>T

1 paper

NM_006015.6

p.G1711_L1712insFs

c.5133_5134insT

1 paper

NM_006015.6

p.P1710fs

c.5128_5129fs

3 papers

NM_006015.6

p.P1710S

c.5128C>T

2 papers

NM_006015.6

p.L1712*

c.5135T>A

2 papers

NM_006015.6

p.L1709F

c.5125C>T

1 paper

NM_006015.6

p.L1713_Y1719delFs

c.5138_5157del20

2 papers

NM_006015.6

p.Q1708_L1709Splc

c.5125-1G>A