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

2 papers

NM_006328.4

p.Y498C

c.1493A>G

Surrounding Variants

1 paper

NM_006328.4

p.R517H

c.1550G>A

1 paper

NM_006328.4

p.Y474delFs

c.1421delA

1 paper

NM_006328.4

p.A529G

c.1586C>G

1 paper

NM_006328.4

p.A458T

c.1372G>A

1 paper

NM_006328.4

p.P456Q

c.1367C>A

1 paper

NM_006328.4

p.A451T

c.1351G>A

1 paper

NM_006328.4

p.A450T

c.1348G>A

1 paper

NM_006328.4

p.A443fs

c.1327_1328fs

1 paper

NM_006328.4

p.A443_S444delFs

c.1327_1330del4

1 paper

NM_006328.4

p.A569_N570ins4

c.1705_1709ins12

1 paper

NM_006328.4

p.T572P

c.1714A>C

1 paper

NM_006328.4

p.P574P

c.1722G>C