Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.T195P

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
2 papers
NM_015559.3
p.T195P
c.583A>C
Surrounding Variants
2 papers
NM_015559.3
p.T195M
c.584C>T
1 paper
NM_015559.3
p.D194Y
c.580G>T
1 paper
NM_015559.3
p.G196fs
c.586_587fs
1 paper
NM_015559.3
p.G196_P208delFs
c.587_623del37
1 paper
NM_015559.3
p.G196D
c.587G>A
1 paper
NM_015559.3
p.Y193N
c.577T>A
3 papers
NM_015559.3
p.P198S
c.592C>T
1 paper
NM_015559.3
p.L191V
c.571C>G
1 paper
NM_015559.3
p.T190S
c.568A>T
1 paper
NM_015559.3
p.D200insFs
c.599_600insG
1 paper
NM_015559.3
p.H188Q
c.564T>G
2 papers
NM_015559.3
p.H188Y
c.562C>T
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