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

1–12 of 200 variants

9 papers

NM_002892.4

p.T779A

c.2335A>G

7 papers

NM_002892.4

p.V260D

c.779T>A

5 papers

NM_002892.4

p.G1071Splc

c.3211+1G>A

4 papers

NM_002892.4

p.K422delFs

c.1266delA

3 papers

NM_002892.4

p.Y394C

c.1181A>G

3 papers

NM_002892.4

p.H411D

c.1231C>G

3 papers

NM_002892.4

p.N724S

c.2171A>G

3 papers

NM_002892.4

p.S1067delFs

c.3199_3200delAG

2 papers

NM_002892.4

p.A3V

c.8C>T

2 papers

NM_002892.4

p.A137S

c.409G>T

2 papers

NM_002892.4

p.P303S

c.907C>T

2 papers

NM_002892.4

p.Y351F

c.1052A>T