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.L175L

c.525A>G

Surrounding Variants

1 paper

NM_002892.4

p.G176R

c.526G>A

1 paper

NM_002892.4

p.G176R

c.526G>C

1 paper

NM_002892.4

p.R168C

c.502C>T

1 paper

NM_002892.4

p.T185M

c.554C>T

1 paper

NM_002892.4

p.E186Q

c.556G>C

1 paper

NM_002892.4

p.E186G

c.557A>G

1 paper

NM_002892.4

p.R187K

c.560G>A

1 paper

NM_002892.4

p.E189Q

c.565G>C

1 paper

NM_002892.4

p.V195L

c.583G>C

1 paper

NM_002892.4

p.V195L

c.583G>T

1 paper

NM_002892.4

p.D202Y

c.604G>T

1 paper

NM_002892.4

p.L212*

c.635T>A