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.H359P

c.1076A>C

Surrounding Variants

1 paper

NM_006015.6

p.H359N

c.1075C>A

1 paper

NM_006015.6

p.H359Y

c.1075C>T

1 paper

NM_006015.6

p.A360_G371delFs

c.1078_1112del35

1 paper

NM_006015.6

p.H358Q

c.1074C>G

1 paper

NM_006015.6

p.A360T

c.1078G>A

1 paper

NM_006015.6

p.A360fs

c.1078_1079fs

1 paper

NM_006015.6

p.A360V

c.1079C>T

1 paper

NM_006015.6

p.P361fs

c.1081_1082fs

1 paper

NM_006015.6

p.S357N

c.1070G>A

1 paper

NM_006015.6

p.S357fs

c.1069_1070fs

1 paper

NM_006015.6

p.M362fs

c.1084_1085fs

1 paper

NM_006015.6

p.S357_H358delFs

c.1070_1073del4