Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.K631N

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.K631N
c.1893G>C
Surrounding Variants
1 paper
NM_015559.3
p.K631N
c.1893G>T
1 paper
NM_015559.3
p.L632F
c.1896G>C
1 paper
NM_015559.3
p.L632F
c.1896G>T
1 paper
NM_015559.3
p.A630G
c.1889C>G
3 papers
NM_015559.3
p.A630V
c.1889C>T
1 paper
NM_015559.3
p.Q634delFs
c.1900delC
1 paper
NM_015559.3
p.A633V
c.1898C>T
2 papers
NM_015559.3
p.Q634fs
c.1900_1901fs
1 paper
NM_015559.3
p.Q634R
c.1901A>G
1 paper
NM_015559.3
p.Q634delFs
c.1902delG
1 paper
NM_015559.3
p.L635L
c.1903C>T
7 papers
NM_015559.3
p.R627H
c.1880G>A
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