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.V2169L

c.6505G>T

Surrounding Variants

1 paper

NM_006015.6

p.V2169L

c.6505G>C

2 papers

NM_006015.6

p.V2169_L2170ins0

c.6507_6509dupACT

1 paper

NM_006015.6

p.V2168V

c.6504G>A

1 paper

NM_006015.6

p.V2168M

c.6502G>A

2 papers

NM_006015.6

p.L2170P

c.6509T>C

1 paper

NM_006015.6

p.L2170_A2172delFs

c.6510_6516del7

1 paper

NM_006015.6

p.L2171delFs

c.6512delT

2 papers

NM_006015.6

p.L2171fs

c.6511_6512fs

1 paper

NM_006015.6

p.A2167fs

c.6499_6500fs

1 paper

NM_006015.6

p.L2171P

c.6512T>C

1 paper

NM_006015.6

p.E2165D

c.6495G>C

1 paper

NM_006015.6

p.E2165D

c.6495G>T