Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.A694V

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.A694V
c.2081C>T
Surrounding Variants
1 paper
NM_015559.3
p.A694S
c.2080G>T
1 paper
NM_015559.3
p.K693E
c.2077A>G
4 papers
NM_015559.3
p.K693fs
c.2077_2078fs
3 papers
NM_015559.3
p.A692_T698Fs
c.2076_2092delinsCFs
1 paper
NM_015559.3
p.P696T
c.2086C>A
1 paper
NM_015559.3
p.P696L
c.2087C>T
1 paper
NM_015559.3
p.T698N
c.2093C>A
1 paper
NM_015559.3
p.L690_K691insC
c.2068_2072ins3
1 paper
NM_015559.3
p.S699_G701del3
c.2095_2102del9
1 paper
NM_015559.3
p.S699G
c.2095A>G
1 paper
NM_015559.3
p.S699T
c.2096G>C
3 papers
NM_015559.3
p.V688I
c.2062G>A
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