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

2 papers

NM_006015.6

p.V63fs

c.187_188fs

Surrounding Variants

2 papers

NM_006015.6

p.V63M

c.187G>A

1 paper

NM_006015.6

p.G64_P65insFs

c.192_193insG

1 paper

NM_006015.6

p.G64_Q67del4

c.190_200del12

3 papers

NM_006015.6

p.A62V

c.185C>T

1 paper

NM_006015.6

p.G64_P68delFs

c.191_204del14

4 papers

NM_006015.6

p.A62T

c.184G>A

2 papers

NM_006015.6

p.G64R

c.190G>A

3 papers

NM_006015.6

p.A62P

c.184G>C

1 paper

NM_006015.6

p.A62_V63insFs

c.186_187insC

1 paper

NM_006015.6

p.A62fs

c.184_185fs

1 paper

NM_006015.6

p.A62delFs

c.185delC

1 paper

NM_006015.6

p.G64_P65delFs

c.191_194del4