Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.K912N

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.K912N
c.2736G>T
Surrounding Variants
1 paper
NM_015559.3
p.K912N
c.2736G>C
1 paper
NM_015559.3
p.N913T
c.2738A>C
2 papers
NM_015559.3
p.R914W
c.2740C>T
2 papers
NM_015559.3
p.R914Q
c.2741G>A
1 paper
NM_015559.3
p.H915Y
c.2743C>T
1 paper
NM_015559.3
p.S910N
c.2729G>A
5 papers
NM_015559.3
p.D908N
c.2722G>A
1 paper
NM_015559.3
p.S907S
c.2721C>T
2 papers
NM_015559.3
p.R918W
c.2752C>T
1 paper
NM_015559.3
p.R918Q
c.2753G>A
1 paper
NM_015559.3
p.S907fs
c.2719_2720fs
1 paper
NM_015559.3
p.S907fs
c.2719_2720fs
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