Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R948C

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
3 papers
NM_015559.3
p.R948C
c.2842C>T
Surrounding Variants
1 paper
NM_015559.3
p.R948S
c.2842C>A
3 papers
NM_015559.3
p.R948H
c.2843G>A
1 paper
NM_015559.3
p.D949N
c.2845G>A
1 paper
NM_015559.3
p.D949E
c.2847T>A
1 paper
NM_015559.3
p.D949E
c.2847T>G
1 paper
NM_015559.3
p.Q946*
c.2836C>T
1 paper
NM_015559.3
p.D950N
c.2848G>A
1 paper
NM_015559.3
p.D950G
c.2849A>G
1 paper
NM_015559.3
p.S944R
c.2832C>A
1 paper
NM_015559.3
p.S944R
c.2832C>G
1 paper
NM_015559.3
p.S944N
c.2831G>A
1 paper
NM_015559.3
p.S944R
c.2830A>C
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