Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.E639K

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.E639K
c.1915G>A
Surrounding Variants
1 paper
NM_015559.3
p.G638R
c.1912G>A
1 paper
NM_015559.3
p.D640N
c.1918G>A
1 paper
NM_015559.3
p.G638R
c.1912G>C
1 paper
NM_015559.3
p.D640E
c.1920C>A
3 papers
NM_015559.3
p.P637R
c.1910C>G
1 paper
NM_015559.3
p.D640E
c.1920C>G
2 papers
NM_015559.3
p.P637L
c.1910C>T
1 paper
NM_015559.3
p.K641_P642insFs
c.1923_1924insT
1 paper
NM_015559.3
p.K641N
c.1923A>C
1 paper
NM_015559.3
p.K641N
c.1923A>T
1 paper
NM_015559.3
p.V636L
c.1906G>C
1 paper
NM_015559.3
p.V636L
c.1906G>T
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