Varaico: Literature-Extracted Genetic Variants

RBM23

60 papers

RefSeq Summary

This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and inc...

Pfam Domains

RRM_1aa 168–236UCSCRNA recognition motif

RRM_1aa 265–335UCSCRNA recognition motif

RBM39linkeraa 353–439UCSClinker between RRM2 and RRM3 domains in RBM39 protein

Gene Aliases

HGNC Name

RNA binding motif protein 23

HGNC Previous Symbol

RNPC4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

3 papers

NM_001077351.2

p.R136R

c.408G>A

2 papers

NM_001077351.2

p.R65W

c.193C>T

2 papers

NM_001077351.2

p.S219S

c.657T>C

2 papers

NM_001077351.2

p.V220insFs

c.659_660insTG

2 papers

NM_001077351.2

p.D359_L360ins1

c.1077_1078insGCC

2 papers

NM_001077351.2

p.L360ins1

c.1078_1079insGCC

1 paper

NM_001077351.2

p.M1I

c.3G>C

1 paper

NM_001077351.2

p.D4G

c.11A>G

1 paper

NM_001077351.2

p.E11K

c.31G>A

1 paper

NM_001077351.2

p.E15delFs

c.44delT

1 paper

NM_001077351.2

p.D23N

c.67G>A

1 paper

NM_001077351.2

p.S40G

c.118A>G