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.F93S

c.278T>C

Surrounding Variants

1 paper

NM_002892.4

p.L101S

c.302T>C

1 paper

NM_002892.4

p.E111Q

c.331G>C

1 paper

NM_002892.4

p.E116V

c.347A>T

1 paper

NM_002892.4

p.D121H

c.361G>C

1 paper

NM_002892.4

p.Q122*

c.364C>T

2 papers

NM_002892.4

p.A137S

c.409G>T

1 paper

NM_002892.4

p.T140M

c.419C>T

1 paper

NM_002892.4

p.G143E

c.428G>A

1 paper

NM_002892.4

p.R145T

c.434G>C

1 paper

NM_002892.4

p.R168C

c.502C>T

1 paper

NM_002892.4

p.L175L

c.525A>G

1 paper

NM_002892.4

p.G176R

c.526G>A