Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P559L

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.P559L
c.1676C>T
Surrounding Variants
1 paper
NM_015559.3
p.P559Q
c.1676C>A
1 paper
NM_015559.3
p.P559T
c.1675C>A
2 papers
NM_015559.3
p.P559fs
c.1675_1676fs
1 paper
NM_015559.3
p.P559P
c.1677G>A
1 paper
NM_015559.3
p.P558H
c.1673C>A
1 paper
NM_015559.3
p.P558L
c.1673C>T
2 papers
NM_015559.3
p.P559delFs
c.1676delC
1 paper
NM_015559.3
p.Y562F
c.1685A>T
2 papers
NM_015559.3
p.P563S
c.1687C>T
1 paper
NM_015559.3
p.I564S
c.1691T>G
1 paper
NM_015559.3
p.K553I
c.1658A>T
1 paper
NM_015559.3
p.T565N
c.1694C>A
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