Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R498_K499ins4

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.R498_K499ins4
c.1492_1496ins12
Surrounding Variants
3 papers
NM_015559.3
p.R498G
c.1492C>G
2 papers
NM_015559.3
p.R498W
c.1492C>T
3 papers
NM_015559.3
p.R498Q
c.1493G>A
1 paper
NM_015559.3
p.R498L
c.1493G>T
1 paper
NM_015559.3
p.P497L
c.1490C>T
2 papers
NM_015559.3
p.P500L
c.1499C>T
1 paper
NM_015559.3
p.P500P
c.1500A>T
1 paper
NM_015559.3
p.P501L
c.1502C>T
1 paper
NM_015559.3
p.V494_T508del15
c.1480_1523del45
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.G493V
c.1478G>T
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