Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P313S

SETBP1

970 papers

RefSeq Summary

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been sho...

Gene Aliases

HGNC Name

SET binding protein 1

HGNC Alias Symbols

SEB; KIAA0437

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015559.3
p.P313S
c.937C>T
Surrounding Variants
1 paper
NM_015559.3
p.P313H
c.938C>A
1 paper
NM_015559.3
p.P313_L314ins1
c.939_940insAAG
1 paper
NM_015559.3
p.L314L
c.942G>A
4 papers
NM_015559.3
p.L314_V315insFs
c.942_943insGT
1 paper
NM_015559.3
p.G310R
c.928G>A
1 paper
NM_015559.3
p.G310R
c.928G>C
1 paper
NM_015559.3
p.D316Y
c.946G>T
1 paper
NM_015559.3
p.D316fs
c.946_947fs
1 paper
NM_015559.3
p.N309K
c.927C>A
1 paper
NM_015559.3
p.N309K
c.927C>G
1 paper
NM_015559.3
p.Q317*
c.949C>T
1 paper
NM_015559.3
p.C308Y
c.923G>A
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."