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.L1768V

c.5302C>G

Surrounding Variants

1 paper

NM_006015.6

p.E1767E

c.5301A>G

3 papers

NM_006015.6

p.L1768P

c.5303T>C

1 paper

NM_006015.6

p.L1769_P1771del0

c.5306_5311del6

1 paper

NM_006015.6

p.L1769delFs

c.5305delC

2 papers

NM_006015.6

p.L1769I

c.5305C>A

1 paper

NM_006015.6

p.L1769V

c.5305C>G

1 paper

NM_006015.6

p.E1767Q

c.5299G>C

6 papers

NM_006015.6

p.E1767*

c.5299G>T

1 paper

NM_006015.6

p.E1766V

c.5297A>T

1 paper

NM_006015.6

p.G1770S

c.5308G>A

1 paper

NM_006015.6

p.E1766fs

c.5296_5297fs

6 papers

NM_006015.6

p.E1766*

c.5296G>T