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.S51F

c.152C>T

Surrounding Variants

1 paper

NM_016196.4

p.T36I

c.107C>T

1 paper

NM_016196.4

p.D30N

c.88G>A

1 paper

NM_016196.4

p.R19M

c.56G>T

1 paper

NM_016196.4

p.R17C

c.49C>T

1 paper

NM_016196.4

p.F80Y

c.239T>A

1 paper

NM_016196.4

p.D82E

c.246C>G

1 paper

NM_016196.4

p.D82E

c.246C>A

3 papers

NM_016196.4

p.R143Q

c.428G>A

1 paper

NM_016196.4

p.E182A

c.545A>C

1 paper

NM_016196.4

p.S2P

c.4T>C

1 paper

NM_016196.4

p.S206L

c.617C>T

2 papers

NM_016196.4

p.M208V

c.622A>G