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.A41S

c.121G>T

Surrounding Variants

2 papers

NM_006015.6

p.A41T

c.121G>A

3 papers

NM_006015.6

p.A41V

c.122C>T

1 paper

NM_006015.6

p.A41_M50delFs

c.123_148del26

1 paper

NM_006015.6

p.A40A

c.120G>A

1 paper

NM_006015.6

p.A40E

c.119C>A

1 paper

NM_006015.6

p.A41A

c.123G>A

3 papers

NM_006015.6

p.A42T

c.124G>A

1 paper

NM_006015.6

p.A40T

c.118G>A

1 paper

NM_006015.6

p.A42P

c.124G>C

1 paper

NM_006015.6

p.A40fs

c.118_119fs

1 paper

NM_006015.6

p.A42fs

c.124_125fs

1 paper

NM_006015.6

p.A42fs

c.124_125fs