Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.I521V

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.I521V
c.1561A>G
Surrounding Variants
1 paper
NM_015559.3
p.Q522*
c.1564C>T
5 papers
NM_015559.3
p.H523delFs
c.1568delA
5 papers
NM_015559.3
p.H523fs
c.1567_1568fs
1 paper
NM_015559.3
p.L518P
c.1553T>C
1 paper
NM_015559.3
p.P524L
c.1571C>T
1 paper
NM_015559.3
p.K525Q
c.1573A>C
1 paper
NM_015559.3
p.F526I
c.1576T>A
1 paper
NM_015559.3
p.S515Y
c.1544C>A
1 paper
NM_015559.3
p.A527S
c.1579G>T
1 paper
NM_015559.3
p.A527D
c.1580C>A
1 paper
NM_015559.3
p.P514A
c.1540C>G
1 paper
NM_015559.3
p.S513P
c.1537T>C
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