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.Q1856H

c.5568G>T

Surrounding Variants

1 paper

NM_006015.6

p.Q1856H

c.5568G>C

1 paper

NM_006015.6

p.T1857fs

c.5569_5570fs

9 papers

NM_006015.6

p.Q1856*

c.5566C>T

1 paper

NM_006015.6

p.I1855I

c.5565C>T

1 paper

NM_006015.6

p.H1858fs

c.5572_5573fs

2 papers

NM_006015.6

p.H1858_F1859delFs

c.5573_5576del4

1 paper

NM_006015.6

p.I1855T

c.5564T>C

2 papers

NM_006015.6

p.F1859L

c.5575T>C

3 papers

NM_006015.6

p.F1859fs

c.5575_5576fs

1 paper

NM_006015.6

p.F1859fs

c.5575_5576fs

1 paper

NM_006015.6

p.F1859insFs

c.5577dupC

1 paper

NM_006015.6

p.F1859delFs

c.5577delC