Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R369S

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.R369S
c.1107G>C
Surrounding Variants
1 paper
NM_015559.3
p.R369S
c.1107G>T
1 paper
NM_015559.3
p.E370K
c.1108G>A
2 papers
NM_015559.3
p.E370Q
c.1108G>C
1 paper
NM_015559.3
p.G371insFs
c.1111_1112ins5
1 paper
NM_015559.3
p.G371D
c.1112G>A
1 paper
NM_015559.3
p.G367E
c.1100G>A
2 papers
NM_015559.3
p.G367W
c.1099G>T
2 papers
NM_015559.3
p.E366K
c.1096G>A
3 papers
NM_015559.3
p.A374T
c.1120G>A
1 paper
NM_015559.3
p.A374S
c.1120G>T
1 paper
NM_015559.3
p.D375H
c.1123G>C
2 papers
NM_015559.3
p.D363Y
c.1087G>T
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