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.W337insFs

c.1009dupT

Surrounding Variants

2 papers

NM_006015.6

p.W337fs

c.1009_1010fs

10 papers

NM_006015.6

p.A339delFs

c.1015delG

1 paper

NM_006015.6

p.W337fs

c.1009_1010fs

1 paper

NM_006015.6

p.Q335R

c.1004A>G

1 paper

NM_006015.6

p.C336delFs

c.1007_1008delGT

9 papers

NM_006015.6

p.W337*

c.1010G>A

1 paper

NM_006015.6

p.Q335Fs

c.1003delinsGAFs

3 papers

NM_006015.6

p.Q335*

c.1003C>T

1 paper

NM_006015.6

p.Q335fs

c.1003_1004fs

9 papers

NM_006015.6

p.W337*

c.1011G>A

1 paper

NM_006015.6

p.G338R

c.1012G>A

1 paper

NM_006015.6

p.G338R

c.1012G>C