Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.Q809*

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.Q809*
c.2425C>T
Surrounding Variants
1 paper
NM_015559.3
p.Q809R
c.2426A>G
1 paper
NM_015559.3
p.Q809L
c.2426A>T
1 paper
NM_015559.3
p.L808I
c.2422C>A
1 paper
NM_015559.3
p.P806R
c.2417C>G
1 paper
NM_015559.3
p.P806L
c.2417C>T
6 papers
NM_015559.3
p.L814F
c.2440C>T
1 paper
NM_015559.3
p.P815S
c.2443C>T
1 paper
NM_015559.3
p.L802_K803Fs
c.2406_2407delinsTFs
1 paper
NM_015559.3
p.L802fs
c.2404_2405fs
1 paper
NM_015559.3
p.F799I
c.2395T>A
1 paper
NM_015559.3
p.G821E
c.2462G>A
3 papers
NM_015559.3
p.I822delFs
c.2464delA
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