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.A597T

c.1789G>A

Surrounding Variants

1 paper

NM_006328.4

p.M598V

c.1792A>G

1 paper

NM_006328.4

p.D590N

c.1768G>A

1 paper

NM_006328.4

p.P584P

c.1752C>T

1 paper

NM_006328.4

p.S582insFs

c.1744dupT

1 paper

NM_006328.4

p.L581fs

c.1741_1742fs

1 paper

NM_006328.4

p.T579A

c.1735A>G

1 paper

NM_006328.4

p.P574P

c.1722G>C

1 paper

NM_006328.4

p.T572P

c.1714A>C

1 paper

NM_006328.4

p.A569_N570ins4

c.1705_1709ins12

1 paper

NM_006328.4

p.A529G

c.1586C>G

1 paper

NM_006328.4

p.R517H

c.1550G>A

2 papers

NM_006328.4

p.Y498C

c.1493A>G