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.P364delFs

c.1092delC

Surrounding Variants

1 paper

NM_006015.6

p.S363fs

c.1087_1088fs

1 paper

NM_006015.6

p.P364_G365del1

c.1091_1093delCCG

1 paper

NM_006015.6

p.G365_P373delFs

c.1093_1118del26

1 paper

NM_006015.6

p.M362fs

c.1084_1085fs

1 paper

NM_006015.6

p.G365E

c.1094G>A

1 paper

NM_006015.6

p.P361fs

c.1081_1082fs

1 paper

NM_006015.6

p.S367ins0

c.1099_1101dupAGC

1 paper

NM_006015.6

p.S366delFs

c.1096delA

2 papers

NM_006015.6

p.S366fs

c.1096_1097fs

1 paper

NM_006015.6

p.A360V

c.1079C>T

1 paper

NM_006015.6

p.S366I

c.1097G>T

1 paper

NM_006015.6

p.S366S

c.1098C>T