Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R587W

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.R587W
c.1759C>T
Surrounding Variants
1 paper
NM_015559.3
p.R587Q
c.1760G>A
11 papers
NM_015559.3
p.R589*
c.1765C>T
1 paper
NM_015559.3
p.R589L
c.1766G>T
1 paper
NM_015559.3
p.P590T
c.1768C>A
1 paper
NM_015559.3
p.K591N
c.1773G>C
1 paper
NM_015559.3
p.K591N
c.1773G>T
7 papers
NM_015559.3
p.K592*
c.1774A>T
1 paper
NM_015559.3
p.T581A
c.1741A>G
2 papers
NM_015559.3
p.Q593*
c.1777C>T
2 papers
NM_015559.3
p.P594delFs
c.1781delC
1 paper
NM_015559.3
p.P594S
c.1780C>T
3 papers
NM_015559.3
p.P594fs
c.1780_1781fs
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