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.A245_A246del1

c.735_737delGGC

Surrounding Variants

7 papers

NM_006015.6

p.A245_A246ins0

c.735_737dupGGC

1 paper

NM_006015.6

p.A243_A244delFs

c.727_730del4

1 paper

NM_006015.6

p.G242D

c.725G>A

1 paper

NM_006015.6

p.A243_A247delFs

c.728_740del13

1 paper

NM_006015.6

p.A243V

c.728C>T

2 papers

NM_006015.6

p.G242R

c.724G>C

1 paper

NM_006015.6

p.G242C

c.724G>T

3 papers

NM_006015.6

p.S241Y

c.722C>A

3 papers

NM_006015.6

p.S241C

c.722C>G

9 papers

NM_006015.6

p.S241F

c.722C>T

3 papers

NM_006015.6

p.A244fs

c.730_731fs

1 paper

NM_006015.6

p.A245_G248delFs

c.735_744del10