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.S1929R

c.5787T>A

Surrounding Variants

1 paper

NM_006015.6

p.S1929R

c.5787T>G

1 paper

NM_006015.6

p.S1930A

c.5788T>G

1 paper

NM_006015.6

p.S1930_S1936delFs

c.5789_5808del20

4 papers

NM_006015.6

p.S1929fs

c.5785_5786fs

1 paper

NM_006015.6

p.S1929R

c.5785A>C

4 papers

NM_006015.6

p.S1930*

c.5789C>A

3 papers

NM_006015.6

p.S1930*

c.5789C>G

2 papers

NM_006015.6

p.K1928N

c.5784G>C

2 papers

NM_006015.6

p.K1928N

c.5784G>T

1 paper

NM_006015.6

p.K1928R

c.5783A>G

2 papers

NM_006015.6

p.E1931*

c.5791G>T

1 paper

NM_006015.6

p.K1928*

c.5782A>T