Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.C534Y

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.C534Y
c.1601G>A
Surrounding Variants
4 papers
NM_015559.3
p.W532*
c.1596G>A
4 papers
NM_015559.3
p.W532*
c.1595G>A
2 papers
NM_015559.3
p.R531S
c.1593G>C
2 papers
NM_015559.3
p.R531S
c.1593G>T
2 papers
NM_015559.3
p.R531M
c.1592G>T
1 paper
NM_015559.3
p.R531W
c.1591A>T
1 paper
NM_015559.3
p.R530Q
c.1589G>A
1 paper
NM_015559.3
p.R530R
c.1588C>A
4 papers
NM_015559.3
p.R530*
c.1588C>T
1 paper
NM_015559.3
p.P539A
c.1615C>G
1 paper
NM_015559.3
p.A527D
c.1580C>A
1 paper
NM_015559.3
p.A527S
c.1579G>T
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