Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R918Q

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.R918Q
c.2753G>A
Surrounding Variants
2 papers
NM_015559.3
p.R918W
c.2752C>T
1 paper
NM_015559.3
p.H921Y
c.2761C>T
1 paper
NM_015559.3
p.H915Y
c.2743C>T
2 papers
NM_015559.3
p.R914Q
c.2741G>A
2 papers
NM_015559.3
p.R914W
c.2740C>T
5 papers
NM_015559.3
p.I923L
c.2767A>C
1 paper
NM_015559.3
p.N913T
c.2738A>C
2 papers
NM_015559.3
p.I923N
c.2768T>A
1 paper
NM_015559.3
p.K912N
c.2736G>C
1 paper
NM_015559.3
p.K912N
c.2736G>T
1 paper
NM_015559.3
p.D925N
c.2773G>A
1 paper
NM_015559.3
p.D925E
c.2775C>A
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