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.C90F

c.269G>T

Surrounding Variants

1 paper

NM_006328.4

p.C90Y

c.269G>A

1 paper

NM_006328.4

p.T91R

c.272C>G

1 paper

NM_006328.4

p.E94G

c.281A>G

2 papers

NM_006328.4

p.R96H

c.287G>A

1 paper

NM_006328.4

p.S97R

c.289A>C

1 paper

NM_006328.4

p.S97R

c.291C>A

1 paper

NM_006328.4

p.S97R

c.291C>G

1 paper

NM_006328.4

p.E100*

c.298G>T

1 paper

NM_006328.4

p.G103E

c.308G>A

1 paper

NM_006328.4

p.I106V

c.316A>G

1 paper

NM_006328.4

p.S71*

c.212C>A

1 paper

NM_006328.4

p.P62L

c.185C>T