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.L398M

c.1192C>A

Surrounding Variants

1 paper

NM_016196.4

p.V406V

c.1218A>G

1 paper

NM_016196.4

p.R407W

c.1219C>T

1 paper

NM_016196.4

p.F422I

c.1264T>A

1 paper

NM_016196.4

p.P371L

c.1112C>T

1 paper

NM_016196.4

p.V370I

c.1108G>A

1 paper

NM_016196.4

p.R366M

c.1097G>T

1 paper

NM_016196.4

p.R366K

c.1097G>A

1 paper

NM_016196.4

p.R360C

c.1078C>T

1 paper

NM_016196.4

p.S493L

c.1478C>T

1 paper

NM_016196.4

p.F518L

c.1552T>C

1 paper

NM_016196.4

p.F518F

c.1554C>T

1 paper

NM_016196.4

p.F518L

c.1554C>G