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.E1765*

c.5293G>T

Surrounding Variants

3 papers

NM_006015.6

p.E1765K

c.5293G>A

1 paper

NM_006015.6

p.E1765fs

c.5293_5294fs

1 paper

NM_006015.6

p.E1765delFs

c.5293delG

1 paper

NM_006015.6

p.E1765_E1766insFs

c.5295_5296insT

1 paper

NM_006015.6

p.E1765D

c.5295A>C

1 paper

NM_006015.6

p.E1765D

c.5295A>T

1 paper

NM_006015.6

p.E1766fs

c.5296_5297fs

6 papers

NM_006015.6

p.E1766*

c.5296G>T

3 papers

NM_006015.6

p.E1764fs

c.5290_5291fs

3 papers

NM_006015.6

p.E1764_E1765Fs

c.5290_5293delinsAAAFs

1 paper

NM_006015.6

p.E1766V

c.5297A>T

1 paper

NM_006015.6

p.E1767Q

c.5299G>C