Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.E844K

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.E844K
c.2530G>A
Surrounding Variants
1 paper
NM_015559.3
p.I845V
c.2533A>G
1 paper
NM_015559.3
p.G846C
c.2536G>T
1 paper
NM_015559.3
p.H841R
c.2522A>G
3 papers
NM_015559.3
p.S847P
c.2539T>C
1 paper
NM_015559.3
p.S847F
c.2540C>T
1 paper
NM_015559.3
p.P839L
c.2516C>T
1 paper
NM_015559.3
p.P839fs
c.2515_2516fs
1 paper
NM_015559.3
p.P839S
c.2515C>T
1 paper
NM_015559.3
p.E850*
c.2548G>T
1 paper
NM_015559.3
p.P839delFs
c.2516delC
1 paper
NM_015559.3
p.E850V
c.2549A>T
1 paper
NM_015559.3
p.N837S
c.2510A>G
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