Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P185H

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.P185H
c.554C>A
Surrounding Variants
1 paper
NM_015559.3
p.Q186E
c.556C>G
1 paper
NM_015559.3
p.Q186*
c.556C>T
1 paper
NM_015559.3
p.R184K
c.551G>A
1 paper
NM_015559.3
p.R184M
c.551G>T
1 paper
NM_015559.3
p.K187E
c.559A>G
3 papers
NM_015559.3
p.E183K
c.547G>A
1 paper
NM_015559.3
p.E183Q
c.547G>C
2 papers
NM_015559.3
p.H188Y
c.562C>T
1 paper
NM_015559.3
p.H188Q
c.564T>G
1 paper
NM_015559.3
p.A181G
c.542C>G
1 paper
NM_015559.3
p.T190S
c.568A>T
1 paper
NM_015559.3
p.L191V
c.571C>G
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