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.I1846fs

c.5536_5537fs

Surrounding Variants

3 papers

NM_006015.6

p.R1845Q

c.5534G>A

1 paper

NM_006015.6

p.R1845_I1846delFs

c.5535_5536delGA

1 paper

NM_006015.6

p.G1847insFs

c.5540dupG

1 paper

NM_006015.6

p.G1847delFs

c.5539delG

2 papers

NM_006015.6

p.R1845W

c.5533C>T

1 paper

NM_006015.6

p.G1847S

c.5539G>A

16 papers

NM_006015.6

p.G1847fs

c.5539_5540fs

9 papers

NM_006015.6

p.W1844*

c.5532G>A

4 papers

NM_006015.6

p.G1847insFs

c.5541dupT

9 papers

NM_006015.6

p.W1844*

c.5531G>A

1 paper

NM_006015.6

p.G1847G

c.5541T>A

47 papers

NM_006015.6

p.D1850insFs

c.5548dupG

NM_139135.4

p.G1847_G1848insFs

c.5541_5542insG