Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.Q233_N234del1

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.Q233_N234del1
c.699_701delGAA
Surrounding Variants
1 paper
NM_015559.3
p.T232I
c.695C>T
2 papers
NM_015559.3
p.N234K
c.702T>A
2 papers
NM_015559.3
p.N234K
c.702T>G
3 papers
NM_015559.3
p.V231I
c.691G>A
12 papers
NM_015559.3
p.V231L
c.691G>C
1 paper
NM_015559.3
p.V231fs
c.691_692fs
1 paper
NM_015559.3
p.V231F
c.691G>T
1 paper
NM_015559.3
p.P230_V231insFs
c.690_691insC
1 paper
NM_015559.3
p.G229V
c.686G>T
3 papers
NM_015559.3
p.G229R
c.685G>A
3 papers
NM_015559.3
p.G229R
c.685G>C
1 paper
NM_015559.3
p.G229*
c.685G>T
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