Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.I677N

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.I677N
c.2030T>A
Surrounding Variants
1 paper
NM_015559.3
p.N676K
c.2028C>A
1 paper
NM_015559.3
p.N676K
c.2028C>G
1 paper
NM_015559.3
p.Q680_I681ins4
c.2038_2042ins12
1 paper
NM_015559.3
p.K675_Q680delFs
c.2023_2039del17
1 paper
NM_015559.3
p.I681_L682del2
c.2041_2045del6
1 paper
NM_015559.3
p.Q680Q
c.2040G>A
7 papers
NM_015559.3
p.I681_L682ins4
c.2041_2045ins12
2 papers
NM_015559.3
p.K673N
c.2019G>C
2 papers
NM_015559.3
p.K673N
c.2019G>T
2 papers
NM_015559.3
p.L682_S683ins4
c.2044_2048ins12
1 paper
NM_015559.3
p.L682Fs
c.2044_2046delinsATFs
2 papers
NM_015559.3
p.L682fs
c.2044_2045fs
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