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.E1786fs

c.5356_5357fs

Surrounding Variants

1 paper

NM_006015.6

p.E1786K

c.5356G>A

2 papers

NM_006015.6

p.E1786Q

c.5356G>C

1 paper

NM_006015.6

p.E1786*

c.5356G>T

1 paper

NM_006015.6

p.E1786fs

c.5356_5357fs

1 paper

NM_006015.6

p.E1786D

c.5358G>C

1 paper

NM_006015.6

p.E1786D

c.5358G>T

1 paper

NM_006015.6

p.D1785N

c.5353G>A

1 paper

NM_006015.6

p.E1787K

c.5359G>A

1 paper

NM_006015.6

p.E1787fs

c.5359_5360fs

1 paper

NM_006015.6

p.E1787_I1788delFs

c.5360_5363del4

1 paper

NM_006015.6

p.D1785fs

c.5353_5354fs

1 paper

NM_006015.6

p.D1785_E1787delFs

c.5354_5361del8