Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1

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
1–12 of 1592 variants
199 papers
NM_015559.3
p.D868N
c.2602G>A
171 papers
NM_015559.3
p.G870S
c.2608G>A
87 papers
NM_015559.3
p.I871T
c.2612T>C
32 papers
NM_015559.3
p.S869N
c.2606G>A
32 papers
NM_015559.3
p.G870D
c.2609G>A
29 papers
NM_015559.3
p.E858K
c.2572G>A
25 papers
NM_015559.3
p.D868Y
c.2602G>T
24 papers
NM_015559.3
p.V1101I
c.3301G>A
21 papers
NM_015559.3
p.D880N
c.2638G>A
18 papers
NM_015559.3
p.S867R
c.2601C>A
18 papers
NM_015559.3
p.D874N
c.2620G>A
17 papers
NM_015559.3
p.S867R
c.2599A>C
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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."