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

1–12 of 86 variants

2 papers

NM_006328.4

p.R96H

c.287G>A

2 papers

NM_006328.4

p.P205R

c.614C>G

2 papers

NM_006328.4

p.Y348Y

c.1044C>T

2 papers

NM_006328.4

p.Y498C

c.1493A>G

1 paper

NM_006328.4

p.M1V

c.1A>G

1 paper

NM_006328.4

p.M1K

c.2T>A

1 paper

NM_006328.4

p.I3K

c.8T>A

1 paper

NM_006328.4

p.T13R

c.38C>G

1 paper

NM_006328.4

p.A38V

c.113C>T

1 paper

NM_006328.4

p.A48A

c.144G>T

1 paper

NM_006328.4

p.R50C

c.148C>T

1 paper

NM_006328.4

p.P62L

c.185C>T