Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.G785R

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
2 papers
NM_015559.3
p.G785R
c.2353G>C
Surrounding Variants
2 papers
NM_015559.3
p.G785R
c.2353G>A
1 paper
NM_015559.3
p.S786Y
c.2357C>A
1 paper
NM_015559.3
p.S786F
c.2357C>T
1 paper
NM_015559.3
p.L783V
c.2347T>G
3 papers
NM_015559.3
p.T781I
c.2342C>T
2 papers
NM_015559.3
p.T781insFs
c.2341_2342insC
1 paper
NM_015559.3
p.S791_E796delFs
c.2372_2387del16
1 paper
NM_015559.3
p.S780A
c.2338T>G
1 paper
NM_015559.3
p.S791fs
c.2371_2372fs
1 paper
NM_015559.3
p.P778Q
c.2333C>A
1 paper
NM_015559.3
p.P792H
c.2375C>A
1 paper
NM_015559.3
p.H777N
c.2329C>A
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