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.G248G

c.744C>T

Surrounding Variants

1 paper

NM_006015.6

p.S249_K250del0

c.745_750del6

1 paper

NM_006015.6

p.G248insFs

c.743_744ins11

2 papers

NM_006015.6

p.G248V

c.743G>T

1 paper

NM_006015.6

p.S249_K250del1

c.746_748delCCA

1 paper

NM_006015.6

p.S249_K250delFs

c.746_750del5

3 papers

NM_006015.6

p.S249C

c.746C>G

2 papers

NM_006015.6

p.G248S

c.742G>A

1 paper

NM_006015.6

p.G248fs

c.742_743fs

1 paper

NM_006015.6

p.G248C

c.742G>T

1 paper

NM_006015.6

p.K250Q

c.748A>C

1 paper

NM_006015.6

p.K250*

c.748A>T

1 paper

NM_006015.6

p.K250fs

c.748_749fs