Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P1072L

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.P1072L
c.3215C>T
Surrounding Variants
1 paper
NM_015559.3
p.P1072H
c.3215C>A
1 paper
NM_015559.3
p.L1075I
c.3223C>A
1 paper
NM_015559.3
p.Q1068H
c.3204G>C
1 paper
NM_015559.3
p.Q1068H
c.3204G>T
5 papers
NM_015559.3
p.S1076L
c.3227C>T
1 paper
NM_015559.3
p.H1077Y
c.3229C>T
1 paper
NM_015559.3
p.H1077insFs
c.3230_3231ins4
2 papers
NM_015559.3
p.G1067S
c.3199G>A
1 paper
NM_015559.3
p.G1067C
c.3199G>T
1 paper
NM_015559.3
p.Y1066*
c.3198C>A
1 paper
NM_015559.3
p.Y1066*
c.3198C>G
4 papers
NM_015559.3
p.T1078M
c.3233C>T
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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."