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.A3V

c.8C>T

Surrounding Variants

1 paper

NM_002892.4

p.T11S

c.31A>T

1 paper

NM_002892.4

p.V16A

c.47T>C

1 paper

NM_002892.4

p.A18T

c.52G>A

1 paper

NM_002892.4

p.R21Q

c.62G>A

1 paper

NM_002892.4

p.E26V

c.77A>T

1 paper

NM_002892.4

p.K37E

c.109A>G

1 paper

NM_002892.4

p.M1insFs

c.2_3insC

1 paper

NM_002892.4

p.K39_V40Splc

c.118-1434A>G

1 paper

NM_002892.4

p.D45A

c.134A>C

1 paper

NM_002892.4

p.D45G

c.134A>G

1 paper

NM_002892.4

p.N46S

c.137A>G

1 paper

NM_002892.4

p.S71C

c.212C>G