Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P252Fs

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.P252Fs
c.755_756delinsTFs
Surrounding Variants
2 papers
NM_015559.3
p.P252fs
c.754_755fs
3 papers
NM_015559.3
p.A253T
c.757G>A
2 papers
NM_015559.3
p.I251N
c.752T>A
1 paper
NM_015559.3
p.I251ins2
c.752_753ins6
1 paper
NM_015559.3
p.I251_P252delFs
c.751_754del4
1 paper
NM_015559.3
p.K250T
c.749A>C
1 paper
NM_015559.3
p.L254P
c.761T>C
1 paper
NM_015559.3
p.E255K
c.763G>A
2 papers
NM_015559.3
p.E255Q
c.763G>C
1 paper
NM_015559.3
p.E255*
c.763G>T
1 paper
NM_015559.3
p.S249C
c.745A>T
1 paper
NM_015559.3
p.P256S
c.766C>T
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