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.A52insFs

c.155_156ins5

Surrounding Variants

2 papers

NM_006015.6

p.A52V

c.155C>T

1 paper

NM_006015.6

p.A52delFs

c.156delA

1 paper

NM_006015.6

p.A54_G55del1

c.161_163delCCG

1 paper

NM_006015.6

p.A53_G64delFs

c.157_191del35

1 paper

NM_006015.6

p.A53_P66del14

c.157_197del42

1 paper

NM_006015.6

p.A52T

c.154G>A

1 paper

NM_006015.6

p.A52S

c.154G>T

3 papers

NM_006015.6

p.A53T

c.157G>A

1 paper

NM_006015.6

p.A53fs

c.157_158fs

1 paper

NM_006015.6

p.K51M

c.152A>T

1 paper

NM_006015.6

p.A53D

c.158C>A

1 paper

NM_006015.6

p.K51fs

c.151_152fs