Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.N218K

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.N218K
c.654C>A
Surrounding Variants
1 paper
NM_015559.3
p.N218K
c.654C>G
1 paper
NM_015559.3
p.H219N
c.655C>A
1 paper
NM_015559.3
p.H219L
c.656A>T
1 paper
NM_015559.3
p.M220L
c.658A>C
1 paper
NM_015559.3
p.M220V
c.658A>G
1 paper
NM_015559.3
p.M220L
c.658A>T
1 paper
NM_015559.3
p.D221N
c.661G>A
1 paper
NM_015559.3
p.Q217insFs
c.649dupC
1 paper
NM_015559.3
p.S215R
c.645C>G
1 paper
NM_015559.3
p.S215N
c.644G>A
1 paper
NM_015559.3
p.W222R
c.664T>A
1 paper
NM_015559.3
p.W222R
c.664T>C
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