Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R544*

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
6 papers
NM_015559.3
p.R544*
c.1630C>T
Surrounding Variants
1 paper
NM_015559.3
p.R544L
c.1631G>T
1 paper
NM_015559.3
p.E545K
c.1633G>A
4 papers
NM_015559.3
p.E545*
c.1633G>T
1 paper
NM_015559.3
p.M542I
c.1626G>A
1 paper
NM_015559.3
p.M542I
c.1626G>C
1 paper
NM_015559.3
p.M542I
c.1626G>T
1 paper
NM_015559.3
p.M542L
c.1624A>C
1 paper
NM_015559.3
p.M542V
c.1624A>G
1 paper
NM_015559.3
p.M542L
c.1624A>T
1 paper
NM_015559.3
p.P539A
c.1615C>G
1 paper
NM_015559.3
p.A549T
c.1645G>A
1 paper
NM_015559.3
p.T550P
c.1648A>C
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