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.S357_H358delFs

c.1070_1073del4

Surrounding Variants

1 paper

NM_006015.6

p.S357fs

c.1069_1070fs

1 paper

NM_006015.6

p.R356K

c.1067G>A

3 papers

NM_006015.6

p.R356fs

c.1066_1067fs

1 paper

NM_006015.6

p.S357N

c.1070G>A

1 paper

NM_006015.6

p.R356delFs

c.1066_1067delAG

1 paper

NM_006015.6

p.Q355*

c.1063C>T

1 paper

NM_006015.6

p.R356delFs

c.1066delA

1 paper

NM_006015.6

p.Q354H

c.1062A>T

1 paper

NM_006015.6

p.Q355_G365del11

c.1063_1094del33

1 paper

NM_006015.6

p.H358Q

c.1074C>G

1 paper

NM_006015.6

p.H359N

c.1075C>A

1 paper

NM_006015.6

p.H359Y

c.1075C>T