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.P1878fs

c.5632_5633fs

Surrounding Variants

1 paper

NM_006015.6

p.P1878H

c.5633C>A

1 paper

NM_006015.6

p.R1879R

c.5635C>A

2 papers

NM_006015.6

p.R1879W

c.5635C>T

2 papers

NM_006015.6

p.A1877P

c.5629G>C

1 paper

NM_006015.6

p.P1876_A1877delins

c.5628_5629delinsGC

2 papers

NM_006015.6

p.R1879Q

c.5636G>A

1 paper

NM_006015.6

p.P1876T

c.5626C>A

1 paper

NM_006015.6

p.P1876fs

c.5626_5627fs

3 papers

NM_006015.6

p.P1876fs

c.5626_5627fs

1 paper

NM_006015.6

p.P1876delFs

c.5626delC

1 paper

NM_006015.6

p.K1880K

c.5640G>A

1 paper

NM_006015.6

p.H1881_V1882ins4

c.5641_5645ins12