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.G1274fs

c.3820_3821fs

Surrounding Variants

1 paper

NM_006015.6

p.G1274R

c.3820G>A

1 paper

NM_006015.6

p.G1274insFs

c.3820_3821ins8

1 paper

NM_006015.6

p.G1274*

c.3820G>T

1 paper

NM_006015.6

p.G1274fs

c.3820_3821fs

2 papers

NM_006015.6

p.M1273I

c.3819G>A

2 papers

NM_006015.6

p.M1273I

c.3819G>C

2 papers

NM_006015.6

p.M1273I

c.3819G>T

1 paper

NM_006015.6

p.M1273fs

c.3817_3818fs

1 paper

NM_006015.6

p.P1275S

c.3823C>T

1 paper

NM_006015.6

p.M1273_Y1281delFs

c.3817_3841del25

5 papers

NM_006015.6

p.A1272V

c.3815C>T

71 papers

NM_006015.6

p.R1276*

c.3826C>T