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.P1747S

c.5239C>T

Surrounding Variants

1 paper

NM_006015.6

p.P1747L

c.5240C>T

1 paper

NM_006015.6

p.D1746G

c.5237A>G

1 paper

NM_006015.6

p.G1748R

c.5242G>A

1 paper

NM_006015.6

p.G1748R

c.5242G>C

1 paper

NM_006015.6

p.D1746fs

c.5236_5237fs

2 papers

NM_006015.6

p.L1745L

c.5235G>T

1 paper

NM_006015.6

p.R1749delFs

c.5245delA

1 paper

NM_006015.6

p.D1746delFs

c.5236delG

2 papers

NM_006015.6

p.R1749fs

c.5245_5246fs

1 paper

NM_006015.6

p.R1749delFs

c.5247delG

1 paper

NM_006015.6

p.L1745fs

c.5233_5234fs

1 paper

NM_006015.6

p.L1745fs

c.5233_5234fs