Varaico: Literature-Extracted Genetic Variants

RBM14

93 papers

RefSeq Summary

This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and mult...

Pfam Domains

RRM_1aa 3–66UCSCRNA recognition motif

RRM_1aa 81–143UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 14

HGNC Alias Symbols

SIP; SYTIP1; COAA; DKFZp779J0927

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006328.4

p.R238W

c.712C>T

Surrounding Variants

1 paper

NM_006328.4

p.T231M

c.692C>T

1 paper

NM_006328.4

p.Y226F

c.677A>T

1 paper

NM_006328.4

p.P253H

c.758C>A

1 paper

NM_006328.4

p.S256F

c.767C>T

1 paper

NM_006328.4

p.G258S

c.772G>A

1 paper

NM_006328.4

p.V259insFs

c.775_776insG

1 paper

NM_006328.4

p.G211S

c.631G>A

2 papers

NM_006328.4

p.P205R

c.614C>G

1 paper

NM_006328.4

p.R203L

c.608G>T

1 paper

NM_006328.4

p.S278A

c.832T>G

1 paper

NM_006328.4

p.V279I

c.835G>A

1 paper

NM_006328.4

p.A190insFs

c.569_570ins4