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.S128G

c.382A>G

Surrounding Variants

3 papers

NM_006015.6

p.S128fs

c.382_383fs

1 paper

NM_006015.6

p.S128_S129ins6

c.382_386ins18

2 papers

NM_006015.6

p.S128N

c.383G>A

1 paper

NM_006015.6

p.S128_S138delFs

c.384_412del29

1 paper

NM_006015.6

p.S128R

c.384C>A

3 papers

NM_006015.6

p.G127D

c.380G>A

1 paper

NM_006015.6

p.G127delFs

c.381delC

1 paper

NM_006015.6

p.S129G

c.385A>G

1 paper

NM_006015.6

p.G127S

c.379G>A

1 paper

NM_006015.6

p.G127R

c.379G>C

1 paper

NM_006015.6

p.G126_G127insFs

c.378_379ins4

1 paper

NM_006015.6

p.G127delFs

c.379delG