Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.E474K

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.E474K
c.1420G>A
Surrounding Variants
1 paper
NM_015559.3
p.S475Y
c.1424C>A
1 paper
NM_015559.3
p.E472Q
c.1414G>C
1 paper
NM_015559.3
p.S477T
c.1429T>A
1 paper
NM_015559.3
p.S477L
c.1430C>T
1 paper
NM_015559.3
p.K469E
c.1405A>G
2 papers
NM_015559.3
p.G479C
c.1435G>T
1 paper
NM_015559.3
p.G479D
c.1436G>A
3 papers
NM_015559.3
p.M470delFs
c.1408delA
1 paper
NM_015559.3
p.L480F
c.1438C>T
1 paper
NM_015559.3
p.L467F
c.1401G>C
1 paper
NM_015559.3
p.L467F
c.1401G>T
1 paper
NM_015559.3
p.L467*
c.1400T>A
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