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.P21R

c.62C>G

Surrounding Variants

1 paper

NM_006015.6

p.P21A

c.61C>G

1 paper

NM_006015.6

p.P21P

c.63C>G

10 papers

NM_006015.6

p.P21del1

c.61_62delCCC

2 papers

NM_006015.6

p.S22A

c.64T>G

1 paper

NM_006015.6

p.S22_E23insA

c.64_68ins3

1 paper

NM_006015.6

p.S22fs

c.64_65fs

2 papers

NM_006015.6

p.S22L

c.65C>T

1 paper

NM_006015.6

p.S22S

c.66G>T

1 paper

NM_006015.6

p.E23K

c.67G>A

1 paper

NM_006015.6

p.E23Q

c.67G>C

1 paper

NM_006015.6

p.E23*

c.67G>T

1 paper

NM_006015.6

p.P19Q

c.56C>A