Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.D868E

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.D868E
c.2604C>G
Surrounding Variants
1 paper
NM_015559.3
p.D868E
c.2604C>A
1 paper
NM_015559.3
p.D868D
c.2604C>T
14 papers
NM_015559.3
p.D868A
c.2603A>C
13 papers
NM_015559.3
p.S869R
c.2605A>C
16 papers
NM_015559.3
p.S869G
c.2605A>G
6 papers
NM_015559.3
p.D868G
c.2603A>G
7 papers
NM_015559.3
p.S869C
c.2605A>T
1 paper
NM_015559.3
p.D868delFs
c.2604delC
1 paper
NM_015559.3
p.S869_I871del0
c.2606_2611del6
199 papers
NM_015559.3
p.D868N
c.2602G>A
32 papers
NM_015559.3
p.S869N
c.2606G>A
5 papers
NM_015559.3
p.D868H
c.2602G>C
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