Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.Q1000L

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.Q1000L
c.2999A>T
Surrounding Variants
1 paper
NM_015559.3
p.D1002Y
c.3004G>T
1 paper
NM_015559.3
p.Y998*
c.2994T>A
1 paper
NM_015559.3
p.Y998*
c.2994T>G
1 paper
NM_015559.3
p.P1003S
c.3007C>T
1 paper
NM_015559.3
p.P1003Q
c.3008C>A
1 paper
NM_015559.3
p.V996M
c.2986G>A
2 papers
NM_015559.3
p.P995L
c.2984C>T
1 paper
NM_015559.3
p.L1005P
c.3014T>C
3 papers
NM_015559.3
p.Y994*
c.2982C>A
3 papers
NM_015559.3
p.Y994*
c.2982C>G
1 paper
NM_015559.3
p.Y994C
c.2981A>G
1 paper
NM_015559.3
p.R1008S
c.3022C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."