Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R729S

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.R729S
c.2187G>C
Surrounding Variants
1 paper
NM_015559.3
p.R729S
c.2187G>T
1 paper
NM_015559.3
p.R729M
c.2186G>T
1 paper
NM_015559.3
p.G728delFs
c.2184delC
1 paper
NM_015559.3
p.G728S
c.2182G>A
3 papers
NM_015559.3
p.A733_L735delFs
c.2199_2203del5
1 paper
NM_015559.3
p.R727Q
c.2180G>A
1 paper
NM_015559.3
p.R727L
c.2180G>T
1 paper
NM_015559.3
p.R727W
c.2179C>T
1 paper
NM_015559.3
p.A733S
c.2197G>T
1 paper
NM_015559.3
p.A733E
c.2198C>A
3 papers
NM_015559.3
p.K726_R732del7
c.2176_2195del21
1 paper
NM_015559.3
p.E734fs
c.2200_2201fs
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