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.N102K

c.306C>A

Surrounding Variants

1 paper

NM_006015.6

p.N102K

c.306C>G

1 paper

NM_006015.6

p.S103delFs

c.307delT

1 paper

NM_006015.6

p.N102S

c.305A>G

1 paper

NM_006015.6

p.S103T

c.307T>A

1 paper

NM_006015.6

p.S103P

c.307T>C

1 paper

NM_006015.6

p.N102D

c.304A>G

2 papers

NM_006015.6

p.S103W

c.308C>G

2 papers

NM_006015.6

p.K101N

c.303G>C

2 papers

NM_006015.6

p.K101N

c.303G>T

1 paper

NM_006015.6

p.N102delFs

c.304delA

1 paper

NM_006015.6

p.N104delFs

c.311delA

1 paper

NM_006015.6

p.N104fs

c.310_311fs