Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.T330K

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.T330K
c.989C>A
Surrounding Variants
1 paper
NM_015559.3
p.V331L
c.991G>C
1 paper
NM_015559.3
p.V331L
c.991G>T
1 paper
NM_015559.3
p.G332D
c.995G>A
1 paper
NM_015559.3
p.K335Fs
c.1003delinsGAFs
1 paper
NM_015559.3
p.P326S
c.976C>T
1 paper
NM_015559.3
p.K336delFs
c.1007delA
1 paper
NM_015559.3
p.P325S
c.973C>T
1 paper
NM_015559.3
p.K336fs
c.1006_1007fs
1 paper
NM_015559.3
p.E324D
c.972G>C
1 paper
NM_015559.3
p.E324D
c.972G>T
1 paper
NM_015559.3
p.K336T
c.1007A>C
1 paper
NM_015559.3
p.K323K
c.969G>A
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