Varaico: Literature-Extracted Genetic Variants

Gene:RBM15
Variant:p.P244H

RBM15

240 papers

RefSeq Summary

Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart ...

Pfam Domains

RRM_1aa 179–246UCSCRNA recognition motif
RRM_1aa 376–445UCSCRNA recognition motif
SPOCaa 778–955UCSCSPOC domain

Gene Aliases

HGNC Name

RNA binding motif protein 15

HGNC Alias Symbols

OTT; OTT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022768.5
p.P244H
c.731C>A
Surrounding Variants
1 paper
NM_022768.5
p.E248K
c.742G>A
1 paper
NM_022768.5
p.L240P
c.719T>C
1 paper
NM_022768.5
p.V239fs
c.715_716fs
1 paper
NM_022768.5
p.V239delFs
c.715delG
1 paper
NM_022768.5
p.A231T
c.691G>A
1 paper
NM_022768.5
p.R258H
c.773G>A
1 paper
NM_022768.5
p.E226K
c.676G>A
1 paper
NM_022768.5
p.E226fs
c.676_677fs
1 paper
NM_022768.5
p.R223_R224delFs
c.669_670delGC
1 paper
NM_022768.5
p.R223_R229delFs
c.668_686del19
1 paper
NM_022768.5
p.P268L
c.803C>T
1 paper
NM_022768.5
p.V220A
c.659T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."