Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.N279I

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.N279I
c.836A>T
Surrounding Variants
1 paper
NM_015559.3
p.N279_N280insFs
c.837_838ins8
5 papers
NM_015559.3
p.N280S
c.839A>G
1 paper
NM_015559.3
p.S278F
c.833C>T
1 paper
NM_015559.3
p.D283_P291del9
c.847_872del27
1 paper
NM_015559.3
p.D283Y
c.847G>T
1 paper
NM_015559.3
p.S275C
c.823A>T
3 papers
NM_015559.3
p.W274*
c.822G>A
3 papers
NM_015559.3
p.W274*
c.821G>A
1 paper
NM_015559.3
p.L284P
c.851T>C
1 paper
NM_015559.3
p.W274R
c.820T>A
1 paper
NM_015559.3
p.W274R
c.820T>C
1 paper
NM_015559.3
p.L285V
c.853C>G
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