Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.D511N

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.D511N
c.1531G>A
Surrounding Variants
1 paper
NM_015559.3
p.D511G
c.1532A>G
1 paper
NM_015559.3
p.T510A
c.1528A>G
1 paper
NM_015559.3
p.S513P
c.1537T>C
2 papers
NM_015559.3
p.T508M
c.1523C>T
1 paper
NM_015559.3
p.P514A
c.1540C>G
1 paper
NM_015559.3
p.S515Y
c.1544C>A
2 papers
NM_015559.3
p.M504V
c.1510A>G
1 paper
NM_015559.3
p.L518P
c.1553T>C
1 paper
NM_015559.3
p.M502I
c.1506G>A
1 paper
NM_015559.3
p.M502I
c.1506G>C
1 paper
NM_015559.3
p.M502I
c.1506G>T
1 paper
NM_015559.3
p.P501L
c.1502C>T
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