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.S1976C

c.5927C>G

Surrounding Variants

1 paper

NM_006015.6

p.S1976F

c.5927C>T

1 paper

NM_006015.6

p.L1977F

c.5929C>T

1 paper

NM_006015.6

p.L1977delFs

c.5930_5931delTT

1 paper

NM_006015.6

p.L1977fs

c.5929_5930fs

1 paper

NM_006015.6

p.L1977P

c.5930T>C

1 paper

NM_006015.6

p.D1975N

c.5923G>A

1 paper

NM_006015.6

p.D1975fs

c.5923_5924fs

1 paper

NM_006015.6

p.D1975fs

c.5923_5924fs

1 paper

NM_006015.6

p.A1978insFs

c.5932dupG

2 papers

NM_006015.6

p.A1978fs

c.5932_5933fs

1 paper

NM_006015.6

p.D1975_V1984del0

c.5924_5950del27

1 paper

NM_006015.6

p.Q1974insFs

c.5921_5922insTT