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.T1908P

c.5722A>C

Surrounding Variants

5 papers

NM_006015.6

p.I1907F

c.5719A>T

1 paper

NM_006015.6

p.I1907fs

c.5719_5720fs

1 paper

NM_006015.6

p.A1909D

c.5726C>A

1 paper

NM_006015.6

p.A1909V

c.5726C>T

11 papers

NM_006015.6

p.R1906Q

c.5717G>A

2 papers

NM_006015.6

p.R1906P

c.5717G>C

2 papers

NM_006015.6

p.R1906fs

c.5716_5717fs

1 paper

NM_006015.6

p.M1911_M1914del4

c.5731_5741del12

1 paper

NM_006015.6

p.K1905fs

c.5713_5714fs

1 paper

NM_006015.6

p.M1911V

c.5731A>G

3 papers

NM_006015.6

p.K1905fs

c.5713_5714fs

1 paper

NM_006015.6

p.M1911_R1918del0

c.5732_5752del21