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.Q2037H

c.6111G>T

Surrounding Variants

2 papers

NM_006015.6

p.Q2037H

c.6111G>C

1 paper

NM_006015.6

p.D2038N

c.6112G>A

2 papers

NM_006015.6

p.Q2037fs

c.6109_6110fs

5 papers

NM_006015.6

p.Q2037*

c.6109C>T

1 paper

NM_006015.6

p.E2036E

c.6108A>G

2 papers

NM_006015.6

p.Q2039fs

c.6115_6116fs

5 papers

NM_006015.6

p.Q2039*

c.6115C>T

1 paper

NM_006015.6

p.Q2039fs

c.6115_6116fs

1 paper

NM_006015.6

p.Q2039insFs

c.6116_6117insT

1 paper

NM_006015.6

p.E2036fs

c.6106_6107fs

1 paper

NM_006015.6

p.E2036*

c.6106G>T

1 paper

NM_006015.6

p.G2040delFs

c.6118delG