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.D423fs

c.1267_1268fs

Surrounding Variants

2 papers

NM_002892.4

p.D423fs

c.1267_1268fs

1 paper

NM_002892.4

p.K422fs

c.1264_1265fs

1 paper

NM_002892.4

p.E420K

c.1258G>A

1 paper

NM_002892.4

p.E420fs

c.1258_1259fs

1 paper

NM_002892.4

p.E426*

c.1276G>T

4 papers

NM_002892.4

p.K422delFs

c.1266delA

1 paper

NM_002892.4

p.E419V

c.1256A>T

1 paper

NM_002892.4

p.E420delFs

c.1258delG

1 paper

NM_002892.4

p.H413Y

c.1237C>T

1 paper

NM_002892.4

p.L434F

c.1302A>C

1 paper

NM_002892.4

p.L434F

c.1302A>T

3 papers

NM_002892.4

p.H411D

c.1231C>G