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.E735delFs

c.2204delA

Surrounding Variants

1 paper

NM_002892.4

p.E735fs

c.2203_2204fs

1 paper

NM_002892.4

p.S740F

c.2219C>T

1 paper

NM_002892.4

p.N728D

c.2182A>G

1 paper

NM_002892.4

p.I743T

c.2228T>C

1 paper

NM_002892.4

p.E725G

c.2174A>G

3 papers

NM_002892.4

p.N724S

c.2171A>G

1 paper

NM_002892.4

p.D719G

c.2156A>G

1 paper

NM_002892.4

p.Q751*

c.2251C>T

1 paper

NM_002892.4

p.L710V

c.2128T>G

1 paper

NM_002892.4

p.Q770R

c.2309A>G

1 paper

NM_002892.4

p.I771V

c.2311A>G

1 paper

NM_002892.4

p.D699N

c.2095G>A