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.A39V

c.116C>T

Surrounding Variants

2 papers

NM_006015.6

p.A39T

c.115G>A

1 paper

NM_006015.6

p.A40delFs

c.119_120delCG

1 paper

NM_006015.6

p.A40T

c.118G>A

1 paper

NM_006015.6

p.A39ins1

c.115_116insGCG

1 paper

NM_006015.6

p.A40fs

c.118_119fs

3 papers

NM_006015.6

p.A42_A43ins0

c.126_128dupGGC

2 papers

NM_006015.6

p.A41_A43ins1

c.123_128dup6

1 paper

NM_006015.6

p.A39_A43ins1

c.117_128dup12

1 paper

NM_006015.6

p.E38A

c.113A>C

2 papers

NM_006015.6

p.E38V

c.113A>T

7 papers

NM_006015.6

p.A42_A43del1

c.126_128delGGC

1 paper

NM_006015.6

p.A39_A40del2

c.115_119del6