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

3 papers

NM_006015.6

p.D2178delFs

c.6532delG

Surrounding Variants

2 papers

NM_006015.6

p.Q2176insFs

c.6528dupG

1 paper

NM_006015.6

p.Q2176insFs

c.6527_6528ins1

10 papers

NM_006015.6

p.Q2176fs

c.6526_6527fs

1 paper

NM_006015.6

p.Q2176E

c.6526C>G

8 papers

NM_006015.6

p.Q2176*

c.6526C>T

1 paper

NM_006015.6

p.Q2176delFs

c.6527delA

4 papers

NM_006015.6

p.Q2176delFs

c.6527_6528delAG

6 papers

NM_006015.6

p.Q2176fs

c.6526_6527fs

1 paper

NM_006015.6

p.G2177_K2189del13

c.6529_6566del39

1 paper

NM_006015.6

p.A2175D

c.6524C>A

1 paper

NM_006015.6

p.A2175fs

c.6523_6524fs

4 papers

NM_006015.6

p.D2178fs

c.6532_6533fs