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.E1733E

c.5199G>A

Surrounding Variants

1 paper

NM_006015.6

p.Y1734delFs

c.5202delT

1 paper

NM_006015.6

p.E1733fs

c.5197_5198fs

4 papers

NM_006015.6

p.E1733*

c.5197G>T

6 papers

NM_006015.6

p.Y1734*

c.5202T>A

5 papers

NM_006015.6

p.Y1734*

c.5202T>G

2 papers

NM_006015.6

p.E1735K

c.5203G>A

1 paper

NM_006015.6

p.E1735fs

c.5203_5204fs

1 paper

NM_006015.6

p.E1735*

c.5203G>T

1 paper

NM_139135.4

p.K1515Q

c.4543A>C

1 paper

NM_006015.6

p.K1732*

c.5194A>T

1 paper

NM_006015.6

p.K1732_E1733del2

c.5194_5198del6

1 paper

NM_006015.6

p.E1735E

c.5205G>A