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.A379D

c.1136C>A

Surrounding Variants

1 paper

NM_006328.4

p.A379T

c.1135G>A

1 paper

NM_006328.4

p.A382T

c.1144G>A

1 paper

NM_006328.4

p.Q368*

c.1102C>T

1 paper

NM_006328.4

p.Y395*

c.1185T>G

1 paper

NM_006328.4

p.S363_S364insA

c.1087_1091ins3

2 papers

NM_006328.4

p.Y348Y

c.1044C>T

1 paper

NM_006328.4

p.N411S

c.1232A>G

1 paper

NM_006328.4

p.G319E

c.956G>A

1 paper

NM_006328.4

p.Y318C

c.953A>G

1 paper

NM_006328.4

p.A443_S444delFs

c.1327_1330del4

1 paper

NM_006328.4

p.A443fs

c.1327_1328fs

1 paper

NM_006328.4

p.S313delFs

c.939delG