Varaico: Literature-Extracted Genetic Variants

RBM19

80 papers

RefSeq Summary

This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the...

Pfam Domains

RRM_1aa 4–73UCSCRNA recognition motif

RRM_11aa 296–375UCSCRRM domain

RRM_1aa 404–474UCSCRNA recognition motif

RRM_1aa 589–653UCSCRNA recognition motif

RRM_1aa 732–805UCSCRNA recognition motif

RRM_1aa 834–906UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 19

HGNC Alias Symbols

DKFZp586F1023; KIAA0682; Mrd1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016196.4

p.Q287L

c.860A>T

Surrounding Variants

1 paper

NM_016196.4

p.G300R

c.898G>C

1 paper

NM_016196.4

p.G300R

c.898G>A

1 paper

NM_016196.4

p.V305V

c.915C>T

1 paper

NM_016196.4

p.E307_K308Splc

c.921+2T>C

1 paper

NM_016196.4

p.K259R

c.776A>G

1 paper

NM_016196.4

p.E255K

c.763G>A

1 paper

NM_016196.4

p.T333S

c.997A>T

1 paper

NM_016196.4

p.E238G

c.713A>G

1 paper

NM_016196.4

p.S220L

c.659C>T

2 papers

NM_016196.4

p.M208V

c.622A>G

1 paper

NM_016196.4

p.S206L

c.617C>T

1 paper

NM_016196.4

p.E182A

c.545A>C