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.W1844delFs

c.5530delT

Surrounding Variants

1 paper

NM_006015.6

p.W1844fs

c.5530_5531fs

1 paper

NM_006015.6

p.W1844delFs

c.5531delG

1 paper

NM_006015.6

p.W1844fs

c.5530_5531fs

1 paper

NM_006015.6

p.H1843fs

c.5527_5528fs

1 paper

NM_006015.6

p.H1843delFs

c.5528delA

1 paper

NM_006015.6

p.H1843fs

c.5527_5528fs

9 papers

NM_006015.6

p.W1844*

c.5531G>A

9 papers

NM_006015.6

p.W1844*

c.5532G>A

2 papers

NM_006015.6

p.R1845W

c.5533C>T

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.L1842_H1843delFs

c.5524_5528del5