Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.H416R

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.H416R
c.1247A>G
Surrounding Variants
1 paper
NM_015559.3
p.H416Y
c.1246C>T
1 paper
NM_015559.3
p.N415D
c.1243A>G
3 papers
NM_015559.3
p.R421delFs
c.1261delA
1 paper
NM_015559.3
p.K419fs
c.1255_1256fs
1 paper
NM_015559.3
p.K419E
c.1255A>G
1 paper
NM_015559.3
p.D412H
c.1234G>C
1 paper
NM_015559.3
p.D412insFs
c.1234_1235ins5
1 paper
NM_015559.3
p.D412Y
c.1234G>T
3 papers
NM_015559.3
p.R421fs
c.1261_1262fs
1 paper
NM_015559.3
p.R421fs
c.1261_1262fs
1 paper
NM_015559.3
p.L411R
c.1232T>G
1 paper
NM_015559.3
p.R421S
c.1263A>C
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