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

8 papers

NM_006015.6

p.Q200*

c.598C>T

Surrounding Variants

1 paper

NM_006015.6

p.Q200fs

c.598_599fs

1 paper

NM_006015.6

p.Q200delFs

c.600delG

2 papers

NM_006015.6

p.Q199Q

c.597G>A

2 papers

NM_006015.6

p.Q199H

c.597G>C

1 paper

NM_006015.6

p.Q199L

c.596A>T

1 paper

NM_006015.6

p.N201fs

c.601_602fs

1 paper

NM_006015.6

p.N201H

c.601A>C

1 paper

NM_006015.6

p.S202_H203del2

c.604_608del6

1 paper

NM_006015.6

p.Q199fs

c.595_596fs

9 papers

NM_006015.6

p.Q199*

c.595C>T

2 papers

NM_006015.6

p.S202_H203delFs

c.606_607delTC

1 paper

NM_006015.6

p.N201K

c.603C>A