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.L374V

c.1120C>G

Surrounding Variants

1 paper

NM_006015.6

p.P373R

c.1118C>G

1 paper

NM_006015.6

p.P373L

c.1118C>T

1 paper

NM_006015.6

p.P373A

c.1117C>G

2 papers

NM_006015.6

p.A375V

c.1124C>T

1 paper

NM_006015.6

p.Q372_P373insFs

c.1116_1117insC

1 paper

NM_006015.6

p.P373delFs

c.1118delC

15 papers

NM_006015.6

p.Q372fs

c.1114_1115fs

3 papers

NM_006015.6

p.Q372*

c.1114C>T

1 paper

NM_006015.6

p.R376W

c.1126C>T

14 papers

NM_006015.6

p.Q372fs

c.1114_1115fs

1 paper

NM_006015.6

p.R376Q

c.1127G>A

1 paper

NM_006015.6

p.G371R

c.1111G>A