Varaico: Literature-Extracted Genetic Variants

ARID4A

145 papers

RefSeq Summary

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB re...

Pfam Domains

RBB1NTaa 170–262UCSCRBB1NT (NUC162) domain

ARIDaa 311–397UCSCARID/BRIGHT DNA binding domain

Tudor-knotaa 574–630UCSCRNA binding activity-knot of a chromodomain

Gene Aliases

HGNC Name

AT-rich interaction domain 4A

HGNC Previous Symbol

RBBP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002892.4

p.V232I

c.694G>A

Surrounding Variants

1 paper

NM_002892.4

p.P238L

c.713C>T

1 paper

NM_002892.4

p.I224V

c.670A>G

1 paper

NM_002892.4

p.F221Splc

c.663-224T>C

1 paper

NM_002892.4

p.A251T

c.751G>A

1 paper

NM_002892.4

p.A251G

c.752C>G

7 papers

NM_002892.4

p.V260D

c.779T>A

1 paper

NM_002892.4

p.S269N

c.806G>A

1 paper

NM_002892.4

p.E280K

c.838G>A

1 paper

NM_002892.4

p.G282delFs

c.845delG

1 paper

NM_002892.4

p.E286Q

c.856G>C

1 paper

NM_002892.4

p.L212*

c.635T>A

1 paper

NM_002892.4

p.L212*

c.635T>G