Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.V598delFs

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.V598delFs
c.1793delT
Surrounding Variants
1 paper
NM_015559.3
p.V598fs
c.1792_1793fs
1 paper
NM_015559.3
p.T597K
c.1790C>A
1 paper
NM_015559.3
p.T597I
c.1790C>T
1 paper
NM_015559.3
p.T597S
c.1789A>T
1 paper
NM_015559.3
p.E599_P612delFs
c.1795_1834del40
1 paper
NM_015559.3
p.E599K
c.1795G>A
1 paper
NM_015559.3
p.E599Q
c.1795G>C
1 paper
NM_015559.3
p.L596V
c.1786C>G
2 papers
NM_015559.3
p.T600M
c.1799C>T
1 paper
NM_015559.3
p.P594H
c.1781C>A
1 paper
NM_015559.3
p.P594L
c.1781C>T
1 paper
NM_015559.3
p.H602N
c.1804C>A
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