Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R1008H

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
3 papers
NM_015559.3
p.R1008H
c.3023G>A
Surrounding Variants
1 paper
NM_015559.3
p.R1008S
c.3022C>A
1 paper
NM_015559.3
p.R1008C
c.3022C>T
1 paper
NM_015559.3
p.S1011insFs
c.3031dupT
1 paper
NM_015559.3
p.S1011fs
c.3031_3032fs
4 papers
NM_015559.3
p.S1011*
c.3032C>A
4 papers
NM_015559.3
p.S1011*
c.3032C>G
1 paper
NM_015559.3
p.L1005P
c.3014T>C
1 paper
NM_015559.3
p.P1003Q
c.3008C>A
1 paper
NM_015559.3
p.P1003S
c.3007C>T
1 paper
NM_015559.3
p.D1002Y
c.3004G>T
1 paper
NM_015559.3
p.Q1000L
c.2999A>T
1 paper
NM_015559.3
p.Y998*
c.2994T>A
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