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

1–12 of 79 variants

4 papers

NM_016196.4

p.G769Splc

c.2305+1G>A

3 papers

NM_016196.4

p.R143Q

c.428G>A

3 papers

NM_016196.4

p.R821Q

c.2462G>A

3 papers

NM_016196.4

p.R921Q

c.2762G>A

2 papers

NM_016196.4

p.M208V

c.622A>G

2 papers

NM_016196.4

p.Q602E

c.1804C>G

2 papers

NM_016196.4

p.I623T

c.1868T>C

2 papers

NM_016196.4

p.T665A

c.1993A>G

2 papers

NM_016196.4

p.R837W

c.2509C>T

2 papers

NM_016196.4

p.M867V

c.2599A>G

1 paper

NM_016196.4

p.S2P

c.4T>C

1 paper

NM_016196.4

p.R17C

c.49C>T