Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.M643L

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.M643L
c.1927A>T
Surrounding Variants
1 paper
NM_015559.3
p.M643L
c.1927A>C
1 paper
NM_015559.3
p.M643V
c.1927A>G
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.S644T
c.1931G>C
1 paper
NM_015559.3
p.S644S
c.1932C>T
3 papers
NM_015559.3
p.E645K
c.1933G>A
1 paper
NM_015559.3
p.E645insFs
c.1934dupA
1 paper
NM_015559.3
p.E645G
c.1934A>G
1 paper
NM_015559.3
p.D640E
c.1920C>A
1 paper
NM_015559.3
p.D640E
c.1920C>G
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