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.P227S

c.679C>T

Surrounding Variants

1 paper

NM_006015.6

p.P227T

c.679C>A

1 paper

NM_006015.6

p.P227fs

c.679_680fs

5 papers

NM_006015.6

p.P227Q

c.680C>A

2 papers

NM_006015.6

p.P227R

c.680C>G

2 papers

NM_006015.6

p.P227L

c.680C>T

1 paper

NM_006015.6

p.A226A

c.678C>T

1 paper

NM_006015.6

p.P227_A228delFs

c.681_684del4

1 paper

NM_006015.6

p.P227_G236del10

c.679_707del30

1 paper

NM_006015.6

p.P227_T238delFs

c.680_713del34

1 paper

NM_006015.6

p.A226D

c.677C>A

2 papers

NM_006015.6

p.A226V

c.677C>T

1 paper

NM_006015.6

p.P227P

c.681G>A