Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.S247R

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.S247R
c.739A>C
Surrounding Variants
1 paper
NM_015559.3
p.S247T
c.740G>C
1 paper
NM_015559.3
p.S247R
c.741C>A
1 paper
NM_015559.3
p.S247R
c.741C>G
1 paper
NM_015559.3
p.S249_K250del1
c.746_748delGCA
1 paper
NM_015559.3
p.T245P
c.733A>C
1 paper
NM_015559.3
p.S249C
c.745A>T
1 paper
NM_015559.3
p.K250T
c.749A>C
1 paper
NM_015559.3
p.I251_P252delFs
c.751_754del4
1 paper
NM_015559.3
p.R243*
c.727A>T
5 papers
NM_015559.3
p.R243fs
c.727_728fs
2 papers
NM_015559.3
p.I251N
c.752T>A
1 paper
NM_015559.3
p.I251ins2
c.752_753ins6
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