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

2 papers

NM_002892.4

p.Y351F

c.1052A>T

Surrounding Variants

1 paper

NM_002892.4

p.N358_I359Splc

c.1074+1G>T

1 paper

NM_002892.4

p.K332E

c.994A>G

1 paper

NM_002892.4

p.Q367*

c.1099C>T

1 paper

NM_002892.4

p.M370I

c.1110G>A

1 paper

NM_002892.4

p.M370I

c.1110G>C

1 paper

NM_002892.4

p.M370I

c.1110G>T

1 paper

NM_002892.4

p.G373V

c.1118G>T

1 paper

NM_002892.4

p.P375A

c.1123C>G

1 paper

NM_002892.4

p.P375L

c.1124C>T

1 paper

NM_002892.4

p.L377F

c.1131G>C

1 paper

NM_002892.4

p.L377F

c.1131G>T

3 papers

NM_002892.4

p.Y394C

c.1181A>G