Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.D868Y

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
25 papers
NM_015559.3
p.D868Y
c.2602G>T
Surrounding Variants
199 papers
NM_015559.3
p.D868N
c.2602G>A
5 papers
NM_015559.3
p.D868H
c.2602G>C
1 paper
NM_015559.3
p.D868insFs
c.2602_2603insA
1 paper
NM_015559.3
p.D868fs
c.2602_2603fs
1 paper
NM_015559.3
p.D868delFs
c.2603delA
14 papers
NM_015559.3
p.D868A
c.2603A>C
6 papers
NM_015559.3
p.D868G
c.2603A>G
1 paper
NM_015559.3
p.D868delFs
c.2604delC
1 paper
NM_015559.3
p.S869_I871del0
c.2606_2611del6
18 papers
NM_015559.3
p.S867R
c.2601C>A
17 papers
NM_015559.3
p.S867R
c.2601C>G
1 paper
NM_015559.3
p.S867S
c.2601C>T
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