Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.I746fs

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.I746fs
c.2236_2237fs
Surrounding Variants
1 paper
NM_015559.3
p.A745V
c.2234C>T
1 paper
NM_015559.3
p.A745insFs
c.2235dupC
1 paper
NM_015559.3
p.P749S
c.2245C>T
1 paper
NM_015559.3
p.P749H
c.2246C>A
1 paper
NM_015559.3
p.P742L
c.2225C>T
1 paper
NM_015559.3
p.R750G
c.2248A>G
1 paper
NM_015559.3
p.E741D
c.2223A>C
1 paper
NM_015559.3
p.E741D
c.2223A>T
1 paper
NM_015559.3
p.P751_S754delFs
c.2251_2260del10
1 paper
NM_015559.3
p.P751_S754del4
c.2251_2261del12
1 paper
NM_015559.3
p.E741*
c.2221G>T
4 papers
NM_015559.3
p.E740K
c.2218G>A
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