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.E57D

c.171A>T

Surrounding Variants

1 paper

NM_006015.6

p.S58_G60del3

c.172_179del9

1 paper

NM_006015.6

p.S58insFs

c.173_174ins16

1 paper

NM_006015.6

p.E57V

c.170A>T

1 paper

NM_006015.6

p.S58C

c.172A>T

1 paper

NM_006015.6

p.E57K

c.169G>A

1 paper

NM_006015.6

p.S58N

c.173G>A

1 paper

NM_006015.6

p.E57fs

c.169_170fs

1 paper

NM_006015.6

p.E57*

c.169G>T

2 papers

NM_006015.6

p.E57delFs

c.170delA

1 paper

NM_006015.6

p.Q56L

c.167A>T

7 papers

NM_006015.6

p.E59*

c.175G>T

1 paper

NM_006015.6

p.G60delFs

c.178_179delGG