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.P252_P253delFs

c.754_757del4

Surrounding Variants

1 paper

NM_006015.6

p.P252fs

c.754_755fs

1 paper

NM_006015.6

p.P252S

c.754C>T

1 paper

NM_006015.6

p.P252fs

c.754_755fs

1 paper

NM_006015.6

p.P252H

c.755C>A

1 paper

NM_006015.6

p.P251A

c.751C>G

1 paper

NM_006015.6

p.P251S

c.751C>T

2 papers

NM_006015.6

p.K250_A257insFs

c.750_771dup22

1 paper

NM_006015.6

p.K250delFs

c.750delG

4 papers

NM_006015.6

p.P253A

c.757C>G

1 paper

NM_006015.6

p.P253S

c.757C>T

1 paper

NM_006015.6

p.S255del1

c.763_765delTCC

1 paper

NM_006015.6

p.K250Q

c.748A>C