Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.D341G

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.D341G
c.1022A>G
Surrounding Variants
1 paper
NM_015559.3
p.D341V
c.1022A>T
1 paper
NM_015559.3
p.D341fs
c.1021_1022fs
1 paper
NM_015559.3
p.V342M
c.1024G>A
1 paper
NM_015559.3
p.V342G
c.1025T>G
1 paper
NM_015559.3
p.I343R
c.1028T>G
2 papers
NM_015559.3
p.S344R
c.1030A>C
1 paper
NM_015559.3
p.K340delFs
c.1020delA
2 papers
NM_015559.3
p.S344R
c.1032T>A
2 papers
NM_015559.3
p.S344R
c.1032T>G
1 paper
NM_015559.3
p.S337Y
c.1010C>A
1 paper
NM_015559.3
p.S337C
c.1010C>G
1 paper
NM_015559.3
p.K336T
c.1007A>C
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