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

2 papers

NM_006015.6

p.E1726D

c.5178G>T

Surrounding Variants

2 papers

NM_006015.6

p.E1726D

c.5178G>C

1 paper

NM_006015.6

p.I1727fs

c.5179_5180fs

2 papers

NM_006015.6

p.E1726Q

c.5176G>C

9 papers

NM_006015.6

p.E1726*

c.5176G>T

1 paper

NM_006015.6

p.E1726delFs

c.5177delA

1 paper

NM_006015.6

p.E1726fs

c.5176_5177fs

1 paper

NM_006015.6

p.F1728insFs

c.5182dupT

1 paper

NM_006015.6

p.I1727M

c.5181C>G

1 paper

NM_006015.6

p.F1728C

c.5183T>G

1 paper

NM_006015.6

p.L1724L

c.5172G>A

1 paper

NM_006015.6

p.I1725delFs

c.5173delA

1 paper

NM_006015.6

p.G1729fs

c.5185_5186fs