Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R421S

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.R421S
c.1263A>T
Surrounding Variants
1 paper
NM_015559.3
p.R421S
c.1263A>C
1 paper
NM_015559.3
p.Q422E
c.1264C>G
3 papers
NM_015559.3
p.R421fs
c.1261_1262fs
1 paper
NM_015559.3
p.R421fs
c.1261_1262fs
1 paper
NM_015559.3
p.S423F
c.1268C>T
1 paper
NM_015559.3
p.I424L
c.1270A>C
1 paper
NM_015559.3
p.K419fs
c.1255_1256fs
1 paper
NM_015559.3
p.K419E
c.1255A>G
3 papers
NM_015559.3
p.R421delFs
c.1261delA
2 papers
NM_015559.3
p.K425*
c.1273A>T
1 paper
NM_015559.3
p.A426T
c.1276G>A
1 paper
NM_015559.3
p.A426V
c.1277C>T
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