Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.A733S

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.A733S
c.2197G>T
Surrounding Variants
1 paper
NM_015559.3
p.A733E
c.2198C>A
1 paper
NM_015559.3
p.E734fs
c.2200_2201fs
4 papers
NM_015559.3
p.E734fs
c.2200_2201fs
3 papers
NM_015559.3
p.A733_L735delFs
c.2199_2203del5
1 paper
NM_015559.3
p.R729S
c.2187G>C
1 paper
NM_015559.3
p.R729S
c.2187G>T
1 paper
NM_015559.3
p.P738delFs
c.2213delC
1 paper
NM_015559.3
p.R729M
c.2186G>T
1 paper
NM_015559.3
p.P737H
c.2210C>A
1 paper
NM_015559.3
p.P737L
c.2210C>T
1 paper
NM_015559.3
p.G728delFs
c.2184delC
1 paper
NM_015559.3
p.P738S
c.2212C>T
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