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

2 papers

NM_006015.6

p.P1875S

c.5623C>T

Surrounding Variants

1 paper

NM_006015.6

p.P1876delFs

c.5626delC

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.P1876_A1877delins

c.5628_5629delinsGC

1 paper

NM_006015.6

p.P1873R

c.5618C>G

1 paper

NM_006015.6

p.P1873L

c.5618C>T

1 paper

NM_006015.6

p.P1873A

c.5617C>G

2 papers

NM_006015.6

p.A1877P

c.5629G>C

1 paper

NM_006015.6

p.P1873delFs

c.5617delC

9 papers

NM_006015.6

p.A1872V

c.5615C>T

1 paper

NM_006015.6

p.P1878fs

c.5632_5633fs