Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P291L

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.P291L
c.872C>T
Surrounding Variants
1 paper
NM_015559.3
p.P291T
c.871C>A
1 paper
NM_015559.3
p.A290T
c.868G>A
1 paper
NM_015559.3
p.A290S
c.868G>T
1 paper
NM_015559.3
p.G288C
c.862G>T
1 paper
NM_015559.3
p.S295I
c.884G>T
1 paper
NM_015559.3
p.H296R
c.887A>G
1 paper
NM_015559.3
p.L285V
c.853C>G
1 paper
NM_015559.3
p.S298L
c.893C>T
1 paper
NM_015559.3
p.L284P
c.851T>C
1 paper
NM_015559.3
p.P299R
c.896C>G
1 paper
NM_015559.3
p.D283Y
c.847G>T
1 paper
NM_015559.3
p.D283_P291del9
c.847_872del27
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