Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R615*

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
2 papers
NM_015559.3
p.R615*
c.1843C>T
Surrounding Variants
1 paper
NM_015559.3
p.P618L
c.1853C>T
1 paper
NM_015559.3
p.T620P
c.1858A>C
4 papers
NM_015559.3
p.V610I
c.1828G>A
1 paper
NM_015559.3
p.K621E
c.1861A>G
1 paper
NM_015559.3
p.K621N
c.1863G>C
1 paper
NM_015559.3
p.K621N
c.1863G>T
5 papers
NM_015559.3
p.S608fs
c.1822_1823fs
1 paper
NM_015559.3
p.T607fs
c.1819_1820fs
1 paper
NM_015559.3
p.T607P
c.1819A>C
4 papers
NM_015559.3
p.T607delFs
c.1821delC
1 paper
NM_015559.3
p.R623T
c.1868G>C
1 paper
NM_015559.3
p.R623I
c.1868G>T
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