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.I771V

c.2311A>G

Surrounding Variants

1 paper

NM_002892.4

p.I771T

c.2312T>C

1 paper

NM_002892.4

p.Q770R

c.2309A>G

1 paper

NM_002892.4

p.T779fs

c.2335_2336fs

9 papers

NM_002892.4

p.T779A

c.2335A>G

1 paper

NM_002892.4

p.Q751*

c.2251C>T

1 paper

NM_002892.4

p.I743T

c.2228T>C

1 paper

NM_002892.4

p.T799A

c.2395A>G

1 paper

NM_002892.4

p.D801N

c.2401G>A

1 paper

NM_002892.4

p.D801H

c.2401G>C

1 paper

NM_002892.4

p.S740F

c.2219C>T

1 paper

NM_002892.4

p.E735fs

c.2203_2204fs

1 paper

NM_002892.4

p.E735delFs

c.2204delA