Varaico: Literature-Extracted Genetic Variants

Gene:RBM15
Variant:p.H531Q

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
3 papers
NM_022768.5
p.H531Q
c.1593T>G
Surrounding Variants
3 papers
NM_022768.5
p.H531Q
c.1593T>A
1 paper
NM_022768.5
p.Y537N
c.1609T>A
1 paper
NM_022768.5
p.Y537S
c.1610A>C
1 paper
NM_022768.5
p.D525H
c.1573G>C
1 paper
NM_022768.5
p.R520G
c.1558C>G
1 paper
NM_022768.5
p.T544S
c.1630A>T
1 paper
NM_022768.5
p.T544S
c.1631C>G
1 paper
NM_022768.5
p.P514P
c.1542A>T
1 paper
NM_022768.5
p.R511R
c.1531C>A
1 paper
NM_022768.5
p.R556Q
c.1667G>A
2 papers
NM_022768.5
p.W507G
c.1519T>G
1 paper
NM_022768.5
p.P560delFs
c.1680delT
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