Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.S763C

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.S763C
c.2288C>G
Surrounding Variants
1 paper
NM_015559.3
p.F765L
c.2293T>C
2 papers
NM_015559.3
p.V761M
c.2281G>A
1 paper
NM_015559.3
p.F765L
c.2295T>A
1 paper
NM_015559.3
p.F765L
c.2295T>G
1 paper
NM_015559.3
p.Q766K
c.2296C>A
2 papers
NM_015559.3
p.Q766R
c.2297A>G
1 paper
NM_015559.3
p.A760V
c.2279C>T
1 paper
NM_015559.3
p.S767*
c.2300C>A
1 paper
NM_015559.3
p.S767*
c.2300C>G
1 paper
NM_015559.3
p.D757E
c.2271T>A
1 paper
NM_015559.3
p.D757E
c.2271T>G
1 paper
NM_015559.3
p.D757fs
c.2269_2270fs
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